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Number of items: 401.

2024

Blumenreich, Shani; Nehushtan, Tamar; Kupervaser, Meital; Shalit, Tali; Gabashvili, Alexandra; Joseph, Tammar; Milenkovic, Ivan; ... Futerman, Anthony H; + view all (2024) Large-scale proteomics analysis of five brain regions from Parkinson’s disease patients with a GBA1 mutation. npj Parkinson's Disease , 10 , Article 33. 10.1038/s41531-024-00645-x. Green open access
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Jiang, Y; Uhm, H; Ip, FC; Ouyang, L; Lo, RMN; Cheng, EYL; Cao, X; ... Ip, NY; + view all (2024) A blood-based multi-pathway biomarker assay for early detection and staging of Alzheimer's disease across ethnic groups. Alzheimer's and Dementia 10.1002/alz.13676. (In press). Green open access
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Luo, Huihui; Gustavsson, Emil K; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; ... Chen, Zhongbo; + view all (2024) Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022). Acta Neuropathol Commun , 12 (1) , Article 2. 10.1186/s40478-023-01706-7. Green open access
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Nazish, Iqra; Mamais, Adamantios; Mallach, Anna; Bettencourt, Conceisao; Kaganovich, Alice; Warner, Thomas; Hardy, John; ... Bandopadhyay, Rina; + view all (2024) Differential LRRK2 signalling and gene expression in WT-LRRK2 and G2019S-LRRK2 mouse microglia treated with zymosan and MLi2. Cells , 13 (1) , Article 53. 10.3390/cells13010053. Green open access
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Zhong, H; Zhou, X; Uhm, H; Jiang, Y; Cao, H; Chen, Y; Mak, TTW; ... Ip, NY; + view all (2024) Using blood transcriptome analysis for Alzheimer's disease diagnosis and patient stratification. Alzheimer's and Dementia 10.1002/alz.13691. (In press). Green open access
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2023

Baker, Emily; Leonenko, Ganna; Schmidt, Karl Michael; Hill, Matthew; Myers, Amanda J; Shoai, Maryam; de Rojas, Itziar; ... Escott-Price, Valentina; + view all (2023) What does heritability of Alzheimer's disease represent? PLOS ONE , 18 (4) , Article e0281440. 10.1371/journal.pone.0281440. Green open access
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Bandres-Ciga, Sara; Faghri, Faraz; Majounie, Elisa; Koretsky, Mathew J; Kim, Jeffrey; Levine, Kristin S; Leonard, Hampton; ... Vitale, Dan; + view all (2023) NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations. medRxiv.org: Cold Spring Harbor, NY, USA. Green open access
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Hampel, Harald; Hu, Yan; Hardy, John; Blennow, Kaj; Chen, Christopher; Perry, George; Kim, Seung Hyun; ... Vergallo, Andrea; + view all (2023) The amyloid-β pathway in Alzheimer's disease: a plain language summary. Neurodegenerative Disease Management 10.2217/nmt-2022-0037. (In press). Green open access
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Hardy, J; (2023) Anti-amyloid therapies work for Alzheimer's disease. Brain Communications , 5 (4) , Article fcad204. 10.1093/braincomms/fcad204. Green open access
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Hardy, John; Mummery, Catherine; (2023) Reply: Unblinding in the lecanemab trial in Alzheimer's disease. Brain , Article awad201. 10.1093/brain/awad201. Green open access
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Hardy, John; Mummery, Catherine; (2023) An anti-amyloid therapy works for Alzheimer's disease: why has it taken so long and what is next? Brain , 146 (4) pp. 1240-1242. 10.1093/brain/awad049. Green open access
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Hardy, John; Mummery, Catherine; (2023) Reply: Lecanemab: turning point, or status quo? An ethics perspective. Brain , Article awad102. 10.1093/brain/awad102. Green open access
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Kaivola, K; Chia, R; Ding, J; Rasheed, M; Fujita, M; Menon, V; Walton, RL; ... Lopez, G; + view all (2023) Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell Genomics , 3 (6) , Article 100316. 10.1016/j.xgen.2023.100316. Green open access
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Langworth-Green, C; Patel, S; Jaunmuktane, Z; Jabbari, E; Morris, H; Thom, M; Lees, A; ... Duff, K; + view all (2023) Chronic effects of inflammation on tauopathies. The Lancet Neurology , 22 (5) pp. 430-442. 10.1016/S1474-4422(23)00038-8. Green open access
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Okunoye, Olaitan; Ojo, Oluwadamilola O; Abiodun, Oladunni; Abubakar, Sani; Achoru, Charles; Adeniji, Olaleye; Agabi, Osigwe; ... Okubadejo, Njideka; + view all (2023) MAPT allele and haplotype frequencies in Nigerian Africans: Population distribution and association with Parkinson's disease risk and age at onset. Parkinsonism & Related Disorders , 113 , Article 105517. 10.1016/j.parkreldis.2023.105517.

Outeiro, TF; Alcalay, RN; Antonini, A; Attems, J; Bonifati, V; Cardoso, F; Chesselet, MF; ... Ferreira, JJ; + view all (2023) Defining the Riddle in Order to Solve It: There Is More Than One “Parkinson's Disease”. Movement Disorders 10.1002/mds.29419. (In press). Green open access
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Rizig, Mie; Bandres-Ciga, Sara; Makarious, Mary B; Ojo, Oluwadamilola Omolara; Crea, Peter Wild; Abiodun, Oladunni Victoria; Levine, Kristin S; ... Global Parkinson's Genetics, Program; + view all (2023) Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study. The Lancet Neurology , 22 (11) pp. 1015-1025. 10.1016/S1474-4422(23)00283-1. Green open access
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Rollo, J; Crawford, J; Hardy, J; (2023) A dynamical systems approach for multiscale synthesis of Alzheimer's pathogenesis. Neuron , 111 (14) pp. 2126-2139. 10.1016/j.neuron.2023.04.018.

Rueda-Carrasco, Javier; Sokolova, Dimitra; Lee, Sang-Eun; Childs, Thomas; Jurčáková, Natália; Crowley, Gerard; De Schepper, Sebastiaan; ... Hong, Soyon; + view all (2023) Microglia-synapse engulfment via PtdSer-TREM2 ameliorates neuronal hyperactivity in Alzheimer's disease models. The EMBO Journal , Article e113246. 10.15252/embj.2022113246. Green open access
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Soreq, L; Bird, H; Mohamed, W; Hardy, J; (2023) Single-cell RNA sequencing analysis of human Alzheimer’s disease brain samples reveals neuronal and glial specific cells differential expression. PLOS ONE , 18 (2) , Article e0277630. 10.1371/journal.pone.0277630. Green open access
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Stevenson-Hoare, J; Schalkamp, AK; Sandor, C; Hardy, J; Escott-Price, V; (2023) New cases of dementia are rising in elderly populations in Wales, UK. Journal of the Neurological Sciences , 451 , Article 120715. 10.1016/j.jns.2023.120715. Green open access
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Zhou, Xiaopu; Chen, Yu; Ip, Fanny CF; Jiang, Yuanbing; Cao, Han; Lv, Ge; Zhong, Huan; ... Ip, Nancy Y; + view all (2023) Deep learning-based polygenic risk analysis for Alzheimer's disease prediction. communications medicine , 3 , Article 49. 10.1038/s43856-023-00269-x. Green open access
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2022

Adhikari, UK; Khan, R; Mikhael, M; Balez, R; David, MA; Mahns, D; Hardy, J; (2022) Therapeutic anti-amyloid β antibodies cause neuronal disturbances. Alzheimer's & Dementia 10.1002/alz.12833. (In press). Green open access
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Andersen, Maren Stolp; Tan, Manuela; Holtman, Inge R; Hardy, John; Pihlstrom, Lasse; (2022) Dissecting the limited genetic overlap of Parkinson's and Alzheimer's disease. Annals of Clinical and Translational Neurology 10.1002/acn3.51606. (In press). Green open access
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Blumenreich, Shani; Nehushtan, Tamar; Barav, Or B; Saville, Jennifer T; Dingjan, Tamir; Hardy, John; Fuller, Maria; (2022) Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation. npj Parkinson's Disease , 8 , Article 99. 10.1038/s41531-022-00363-2. Green open access
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Bracher-Smith, Matthew; Leonenko, Ganna; Baker, Emily; Crawford, Karen; Graham, Andrew C; Salih, Dervis A; Howell, Brian W; ... Escott-Price, Valentina; + view all (2022) Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis. Neurobiology of Aging , 119 pp. 67-76. 10.1016/j.neurobiolaging.2022.07.009. Green open access
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Escott-Price, Valentina; Hardy, John; (2022) Genome-wide association studies for Alzheimer's disease: bigger is not always better. Brain Communications , 4 (3) , Article fcac125. 10.1093/braincomms/fcac125. Green open access
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Hardy, J; De Strooper, B; Escott-Price, V; (2022) Diabetes and Alzheimer's disease: shared genetic susceptibility? The Lancet Neurology , 21 (11) pp. 962-964. 10.1016/S1474-4422(22)00395-7. Green open access
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Hatton, Christopher; Ghanem, Simona S; Koss, David J; Abdi, Ilham Y; Gibbons, Elizabeth; Guerreiro, Rita; Bras, Jose; ... Erskine, Daniel; + view all (2022) Prion-like α-synuclein pathology in the brain of infants with Krabbe disease. Brain , 145 (4) pp. 1257-1263. 10.1093/brain/awac002. Green open access
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Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; ... Genomics England Research Consortium, .; + view all (2022) Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. The Lancet Neurology , 21 (3) pp. 234-245. 10.1016/S1474-4422(21)00462-2. Green open access
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Jiang, Y; Zhou, X; Ip, FC; Chan, P; Chen, Y; Lai, NCH; Cheung, K; ... Ip, NY; + view all (2022) Large-scale plasma proteomic profiling identifies a high-performance biomarker panel for Alzheimer's disease screening and staging. Alzheimer's & Dementia , 18 (1) pp. 88-102. 10.1002/alz.12369. Green open access
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Jiang, Y; Zhou, X; Wong, HY; Ouyang, L; Ip, FCF; Chau, VMN; Lau, SF; ... Albers, CS; + view all (2022) An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-ε4 in female patients with Alzheimer’s disease. Nature Aging , 2 pp. 616-634. 10.1038/s43587-022-00241-9. Green open access
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Kaivola, K; Shah, Z; Chia, R; Black, SE; Gan-Or, Z; Keith, J; Masellis, M; ... Scholz, SW; + view all (2022) Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. Brain , 145 (5) pp. 1757-1762. 10.1093/brain/awab402. Green open access
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Karlsson, Ida K; Escott-Price, Valentina; Gatz, Margaret; Hardy, John; Pedersen, Nancy L; Shoai, Maryam; Reynolds, Chandra A; (2022) Measuring heritable contributions to Alzheimer's disease: polygenic risk score analysis with twins. Brain Communications , 4 (1) , Article fcab308. 10.1093/braincomms/fcab308. Green open access
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Park, Jong-Chan; Barahona-Torres, Natalia; Jang, So-Young; Mok, Kin Y; Kim, Haeng Jun; Han, Sun-Ho; Cho, Kwang-Hyun; ... Hardy, John; + view all (2022) Multi-Omics-Based Autophagy-Related Untypical Subtypes in Patients with Cerebral Amyloid Pathology. Advanced Science , Article 2201212. 10.1002/advs.202201212. (In press). Green open access
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Wong, Hiu Yi; Zhong, Huan; Zhong, Mingqian; Zhou, Xiaopu; Chan, Phillip YC; Kwok, Timothy CY; Mok, Kin; ... Ip, Nancy Y; + view all (2022) Demographics and Medication Use of Patients with Late-Onset Alzheimer's Disease in Hong Kong. Journal of Alzheimer's Disease 10.3233/JAD-215312. (In press). Green open access
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2021

Andersen, MS; Bandres-Ciga, S; Reynolds, RH; Hardy, J; Ryten, M; Krohn, L; Gan-Or, Z; ... Pihlstrøm, L; + view all (2021) Heritability enrichment implicates microglia in Parkinson's disease pathogenesis. Annals of Neurology , 89 (5) pp. 942-951. 10.1002/ana.26032. Green open access
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Arber, C; Lovejoy, C; Harris, L; Willumsen, N; Alatza, A; Casey, JM; Lines, G; ... Wray, S; + view all (2021) Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis. Cell Reports , 34 (2) , Article 108615. 10.1016/j.celrep.2020.108615. Green open access
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Benitez, DP; Jiang, S; Wood, J; Wang, R; Hall, CM; Peerboom, C; Wong, N; ... Cummings, DM; + view all (2021) Knock-in models related to Alzheimer’s disease: synaptic transmission, plaques and the role of microglia. Molecular Neurodegeneration , 16 (1) , Article 47. 10.1186/s13024-021-00457-0. Green open access
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Blauwendraat, C; Iwaki, H; Makarious, MB; Bandres-Ciga, S; Leonard, H; Grenn, FP; Lake, J; ... Lynch, TL; + view all (2021) Investigation of Autosomal Genetic Sex Differences in Parkinson's disease. Annals of Neurology , 90 (1) pp. 35-42. 10.1002/ana.26090. Green open access
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Chelban, V; Breza, M; Szaruga, M; Vandrovcova, J; Murphy, D; Lee, C-J; Alikhwan, S; ... Koutsis, G; + view all (2021) Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease. Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring , 13 (1) , Article e12186. 10.1002/dad2.12186. Green open access
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Chen, Z; Zhang, D; Reynolds, RH; Gustavsson, EK; García-Ruiz, S; D'Sa, K; Fairbrother-Browne, A; ... Ryten, M; + view all (2021) Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications , 12 , Article 2076. 10.1038/s41467-021-22262-5. Green open access
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Chia, R; Sabir, MS; Bandres-Ciga, S; Saez-Atienzar, S; Reynolds, RH; Gustavsson, E; Walton, RL; ... Scholz, SW; + view all (2021) Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics , 53 pp. 294-30353. 10.1038/s41588-021-00785-3. Green open access
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Cosker, K; Mallach, A; Limaye, J; Piers, TM; Staddon, J; Neame, SJ; Hardy, J; (2021) Microglial signalling pathway deficits associated with the patient derived R47H TREM2 variants linked to AD indicate inability to activate inflammasome. Scientific Reports , 11 (1) , Article 13316. 10.1038/s41598-021-91207-1. Green open access
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Dewan, R; Chia, R; Ding, J; Hickman, RA; Stein, TD; Abramzon, Y; Ahmed, S; ... Traynor, BJ; + view all (2021) Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron , 109 (3) 448-460.e4. 10.1016/j.neuron.2020.11.005. Green open access
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Feleke, R; Reynolds, RH; Smith, AM; Tilley, B; Taliun, SAG; Hardy, J; Matthews, PM; ... Ryten, M; + view all (2021) Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases. Acta Neuropathologica 10.1007/s00401-021-02343-x. (In press). Green open access
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García-Ruiz, S; Gil-Martínez, AL; Cisterna, A; Jurado-Ruiz, F; Reynolds, RH; NABEC (North America Brain Expression Consortium), .; Cookson, MR; ... Botía, JA; + view all (2021) CoExp: A Web Tool for the Exploitation of Co-expression Networks. Frontiers in Gentics , 12 , Article 630187. 10.3389/fgene.2021.630187. Green open access
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Gillard, S; Dare, C; Hardy, J; Nyikavaranda, P; Rowan Olive, R; Shah, P; Birken, M; ... NIHR Mental Health Policy Research Unit Covid coproduction resea; + view all (2021) Experiences of living with mental health problems during the COVID-19 pandemic in the UK: a coproduced, participatory qualitative interview study. Social Psychiatry and Psychiatric Epidemiology , 56 pp. 1447-1457. 10.1007/s00127-021-02051-7. Green open access
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Hampel, H; Hardy, J; Blennow, K; Chen, C; Perry, G; Kim, SH; Villemagne, VL; ... Vergallo, A; + view all (2021) The Amyloid-beta Pathway in Alzheimer's Disease. Molecular Psychiatry 10.1038/s41380-021-01249-0. (In press). Green open access
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Hardy, J; Salih, D; (2021) TREM2-mediated activation of microglia breaks link between amyloid and tau. The Lancet Neurology , 20 (6) pp. 416-417. 10.1016/s1474-4422(21)00133-2. Green open access
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Hung, C; Tuck, E; Stubbs, V; Van der Lee, SJ; Aalfs, C; Van Spaendonk, R; Scheltens, P; ... Livesey, FJ; + view all (2021) SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network. Cell Reports , 35 (11) , Article 109259. 10.1016/j.celrep.2021.109259. Green open access
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Jabbari, E; Koga, S; Valentino, R; Reynolds, R; Ferrari, R; Tan, M; Rowe, J; ... Morris, H; + view all (2021) Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study. The Lancet Neurology , 20 (2) pp. 107-116. 10.1016/S1474-4422(20)30394-X. Green open access
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Johnson, JO; Chia, R; Miller, DE; Li, R; Kumaran, R; Abramzon, Y; Alahmady, N; ... Turner, MR; + view all (2021) Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurology 10.1001/jamaneurol.2021.2598. Green open access
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Kaiyrzhanov, R; Aitkulova, A; Vandrovcova, J; Murphy, D; Zharkinbekova, N; Shashkin, C; Akhmetzhanov, V; ... Houlden, H; + view all (2021) A glimpse of the genetics of young-onset Parkinson's disease in Central Asia. Molecular Genetics & Genomic Medicine 10.1002/mgg3.1671. (In press). Green open access
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Kara, E; Crimi, A; Wiedmer, A; Emmenegger, M; Manzoni, C; Bandres-Ciga, S; D'Sa, K; ... Aguzzi, A; + view all (2021) An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein. Cell Reports , 35 (10) , Article 109189. 10.1016/j.celrep.2021.109189. Green open access
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Khani, M; Shamshiri, H; Taheri, H; Hardy, J; Bras, JT; Carmona, S; Moazzeni, H; ... Elahi, E; + view all (2021) BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes. Neurobiology of Aging , 99 102.e1-102.e10. 10.1016/j.neurobiolaging.2020.09.021. Green open access
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Khani, M; Taheri, H; Shamshiri, H; Moazzeni, H; Hardy, J; Bras, JT; InanlooRahatloo, K; ... Elahi, E; + view all (2021) Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation. Journal of Neurology , 268 pp. 640-650. 10.1007/s00415-020-10171-4. Green open access
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Kia, DA; Zhang, D; Guelfi, S; Manzoni, C; Hubbard, L; Reynolds, RH; Botía, J; ... Botiá, JA; + view all (2021) Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology , 78 (4) pp. 464-472. 10.1001/jamaneurol.2020.5257. Green open access
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Kumar, A; Shoai, M; Palmqvist, S; Stomrud, E; Hardy, J; Mattsson-Carlgren, N; Hansson, O; (2021) Genetic effects on longitudinal cognitive decline during the early stages of Alzheimer's disease. Scientific Reports , 11 , Article 19853. 10.1038/s41598-021-99310-z. Green open access
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Lalli, G; Schott, JM; Hardy, J; De Strooper, B; (2021) Aducanumab: a new phase in therapeutic development for Alzheimer’s disease? EMBO Molecular Medicine , 13 , Article e14781. 10.15252/emmm.202114781. Green open access
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Lawingco, T; Chaudhury, S; Brookes, KJ; Guetta-Baranes, T; Guerreiro, R; Bras, J; Hardy, J; ... Morgan, K; + view all (2021) Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer's disease. Neurobiology of Aging , 101 299.e13-299.e21. 10.1016/j.neurobiolaging.2020.11.009. Green open access
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Ly, H; Verma, N; Sharma, S; Kotiya, D; Despa, S; Abner, EL; Nelson, PT; ... Despa, F; + view all (2021) The association of circulating amylin with β‐amyloid in familial Alzheimer's disease. Alzheimer's & Dementia , 7 (1) , Article e12130. 10.1002/trc2.12130. Green open access
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Magrinelli, F; Mehta, S; Di Lazzaro, G; Latorre, A; Edwards, MJ; Balint, B; Basu, P; ... Bhatia, KP; + view all (2021) Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism. Movement Disorders 10.1002/mds.28807. (In press). Green open access
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Magusali, N; Graham, AC; Piers, TM; Panichnantakul, P; Yaman, U; Shoai, M; Reynolds, RH; ... Salih, DA; + view all (2021) A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene. Brain 10.1093/brain/awab337. (In press). Green open access
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Mallach, A; Gobom, J; Arber, C; Piers, TM; Hardy, J; Wray, S; Zetterberg, H; (2021) Differential stimulation of pluripotent stem cell-derived human microglia leads to exosomal proteomic changes affecting neurons. Cells , 10 (11) , Article 2866. 10.3390/cells10112866. Green open access
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Mallach, A; Gobom, J; Zetterberg, H; Hardy, J; Piers, TM; Wray, S; Pocock, JM; (2021) The influence of the R47H triggering receptor expressed on myeloid cells 2 variant on microglial exosome profiles. Brain Communications , 3 (2) , Article fcab009. 10.1093/braincomms/fcab009. Green open access
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Mok, KY; East Asian Parkinson Disease Genomics Consortium; (2021) The East Asian Parkinson Disease Genomics Consortium. The Lancet Neurology , 20 (12) p. 982. 10.1016/S1474-4422(21)00373-2. Green open access
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Muldmaa, M; Mencacci, NE; Pittman, A; Kadastik-Eerme, L; Sikk, K; Taba, P; Hardy, J; (2021) Community-based genetic study of Parkinson's disease in Estonia. Acta Neurologica Scandinavica , 143 (1) pp. 89-95. 10.1111/ane.13329. Green open access
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Najar, J; Van der Lee, SJ; Joas, E; Wetterberg, H; Hardy, J; Guerreiro, R; Bras, J; ... Zettergren, A; + view all (2021) Polygenic risk scores for Alzheimer's disease are related to dementia risk in APOE ɛ4 negatives. Alzheimer's & Dementia , 13 (1) , Article e12142. 10.1002/dad2.12142. Green open access
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Nazish, I; Arber, C; Piers, TM; Warner, TT; Hardy, JA; Lewis, PA; Pocock, JM; (2021) Abrogation of LRRK2 dependent Rab10 phosphorylation with TLR4 activation and alterations in evoked cytokine release in immune cells. Neurochemistry International , 147 , Article 105070. 10.1016/j.neuint.2021.105070. Green open access
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Niemi, MEK; Karjalainen, J; Liao, RG; Neale, BM; Daly, M; Ganna, A; Pathak, GA; ... Donohue, C; + view all (2021) Mapping the human genetic architecture of COVID-19. Nature , 600 pp. 472-477. 10.1038/s41586-021-03767-x. Green open access
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Noyce, Alastair; (2021) GP2 : The Global Parkinson's Genetics Program. Movement Disorders 10.1002/mds.28494. (In press). Green open access
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Pairo-Castineira, E; Clohisey, S; Klaric, L; Bretherick, AD; Rawlik, K; Pasko, D; Walker, S; ... Baillie, JK; + view all (2021) Genetic mechanisms of critical illness in COVID-19. Nature , 591 pp. 92-98. 10.1038/s41586-020-03065-y. Green open access
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Samanci, B; Bilgiç, B; Gelişin, Ö; Tepgeç, F; Guven, G; Tüfekçioğlu, Z; Alaylıoğlu, M; ... Emre, M; + view all (2021) TREM2 Variants as A Possible Cause of Frontotemporal Dementia with Distinct Neuroimaging Features. European Journal of Neurology , 28 (8) pp. 2603-2613. 10.1111/ene.14908. Green open access
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Sánchez, JA; Gil-Martinez, AL; Cisterna, A; García-Ruíz, S; Gómez-Pascual, A; Reynolds, RH; Nalls, M; ... Botía, JA; + view all (2021) Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights. Bioinformatics 10.1093/bioinformatics/btab175. (In press). Green open access
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Sayed, Faten A; Kodama, Lay; Fan, Li; Carling, Gillian K; Udeochu, Joe C; Le, David; Li, Qingyun; ... Gan, Li; + view all (2021) AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation. Science Translational Medicine , 13 (622) , Article eabe3947. 10.1126/scitranslmed.abe3947. Green open access
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Scheltens, P; De Strooper, B; Kivipelto, M; Holstege, H; Chételat, G; Teunissen, CE; Cummings, J; (2021) Alzheimer's disease. The Lancet , 397 (10284) pp. 1577-1590. 10.1016/S0140-6736(20)32205-4. Green open access
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Simone, R; Javad, F; Emmett, W; Wilkins, OG; Almeida, FL; Barahona-Torres, N; Zareba-Paslawska, J; ... De Silva, R; + view all (2021) MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration. Nature , 594 pp. 117-123. 10.1038/s41586-021-03556-6. Green open access
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Storm, CS; Kia, DA; Almramhi, MM; Bandres-Ciga, S; Finan, C; Hingorani, AD; Wood, NW; (2021) Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome. Nature Communications , 12 (1) , Article 7342. 10.1038/s41467-021-26280-1. Green open access
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Sullivan, R; Yau, WY; Chelban, V; Rossi, S; Dominik, N; O'Connor, E; Hardy, J; ... Houlden, H; + view all (2021) RFC1-related ataxia is a mimic of early multiple system atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2020-325092. (In press). Green open access
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Tosh, JL; Rhymes, ER; Mumford, P; Whittaker, HT; Pulford, LJ; Noy, SJ; Cleverley, K; ... Wiseman, FK; + view all (2021) Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models. Scientific Reports , 11 (1) , Article 5736. 10.1038/s41598-021-85062-3. Green open access
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van Rheenen, W; van der Spek, RAA; Bakker, MK; van Vugt, JJFA; Hop, PJ; Zwamborn, RAJ; de Klein, N; ... Veldink, JH; + view all (2021) Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics , 53 (12) pp. 1636-1648. 10.1038/s41588-021-00973-1. Green open access
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Vavouraki, N; Tomkins, JE; Kara, E; Houlden, H; Hardy, J; Tindall, MJ; Lewis, PA; (2021) Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias. iScience , Article 102484. 10.1016/j.isci.2021.102484. (In press). Green open access
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Xiromerisiou, G; Bourinaris, T; Houlden, H; Lewis, PA; Senkevich, K; Hammer, M; Federoff, M; ... Hardy, J; + view all (2021) SORL1 mutation in a Greek family with Parkinson's disease and dementia. Annals of Clinical and Translational Neurology 10.1002/acn3.51433. (In press). Green open access
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Zimmerman, KA; Laverse, E; Samra, R; Yanez Lopez, M; Jolly, AE; Bourke, NJ; Graham, NSN; ... Sharp, DJ; + view all (2021) White matter abnormalities in active elite adult rugby players. Brain Communications , 3 (3) , Article fcab133. 10.1093/braincomms/fcab133. Green open access
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2020

Alić, I; Goh, PA; Murray, A; Portelius, E; Gkanatsiou, E; Gough, G; Mok, KY; ... Nižetić, D; + view all (2020) Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain. Molecular Psychiatry 10.1038/s41380-020-0806-5. Green open access
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Altmann, A; Scelsi, M; Shoai, M; De Silva, E; Aksman, L; Cash, D; Hardy, J; (2020) A comprehensive analysis of methods for assessing polygenic burden on Alzheimer’s disease pathology and risk beyond APOE. Brain Communications , 2 (1) , Article fcz047. 10.1093/braincomms/fcz047. Green open access
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Arber, C; Toombs, J; Lovejoy, C; Ryan, NS; Paterson, RW; Willumsen, N; Gkanatsiou, E; ... Wray, S; + view all (2020) Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta. Molecular Psychiatry , 25 pp. 2919-2931. 10.1038/s41380-019-0410-8. Green open access
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Bartolome, F; Krzyzanowska, A; de la Cueva, M; Pascual, C; Antequera, D; Spuch, C; Villarejo-Galende, A; ... Carro, E; + view all (2020) Annexin A5 prevents amyloid-β-induced toxicity in choroid plexus: implication for Alzheimer’s disease. Scientific Reports , 10 , Article 9391. 10.1038/s41598-020-66177-5. Green open access
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Blauwendraat, C; Reed, X; Krohn, L; Heilbron, K; Bandres-Ciga, S; Tan, M; Gibbs, JR; ... Singleton, AB; + view all (2020) Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain , 143 (1) pp. 234-248. 10.1093/brain/awz350. Green open access
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Brown, EE; Blauwendraat, C; Trinh, J; Rizig, M; Nalls, MA; Leveille, E; Ruskey, JA; ... International Parkinson Disease Genomics Consortium (IPDGC); + view all (2020) Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease. Neurobiology of Aging 10.1016/j.neurobiolaging.2020.07.002. (In press). Green open access
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Chen, Z; Yan Yau, W; Jaunmuktane, Z; Tucci, A; Sivakumar, P; Gagliano Taliun, SA; Turner, C; ... Houlden, H; + view all (2020) Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of Clinical and Translational Neurology , 7 (9) pp. 1716-1725. 10.1002/acn3.51151. Green open access
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D'Souza, H; Mason, L; Mok, KY; Startin, CM; Hamburg, S; Hithersay, R; Baksh, RA; ... London Down Syndrome (LonDownS) Consortium; + view all (2020) Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome. JAMA Network Open , 3 (9) , Article e2018221. 10.1001/jamanetworkopen.2020.18221. Green open access
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Daunt, P; Ballard, CG; Creese, B; Davidson, G; Hardy, J; Oshota, O; Pither, RJ; (2020) Polygenic Risk Scoring is an Effective Approach to Predict Those Individuals Most Likely to Decline Cognitively Due to Alzheimer’s Disease. Journal of Prevention of Alzheimer's Disease 10.14283/jpad.2020.64. Green open access
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Gao, Y; Wang, T; Yu, X; International FTD-Genomics Consortium (IFGC); Zhao, H; Zeng, P; (2020) Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis. Scientific Reports , 10 , Article 12184. 10.1038/s41598-020-68848-9. Green open access
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Guelfi, S; D'Sa, K; Botía, JA; Vandrovcova, J; Reynolds, RH; Zhang, D; Trabzuni, D; ... Ryten, M; + view all (2020) Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. Nature Communications , 11 , Article 1041. 10.1038/s41467-020-14483-x. Green open access
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Hampel, H; Vassar, R; De Strooper, B; Hardy, J; Willem, M; Singh, N; Zhou, J; ... Vergallo, A; + view all (2020) The β-Secretase BACE1 in Alzheimer's Disease. Biological Psychiatry 10.1016/j.biopsych.2020.02.001. (In press). Green open access
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Hithersay, R; Baksh, RA; Startin, CM; Wijeratne, P; Hamburg, S; Carter, B; LonDownS Consortium; (2020) Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome. Alzheimer's & Dementia 10.1002/alz.12222. (In press). Green open access
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Lauwers, E; Lalli, G; Brandner, S; Collinge, J; Compernolle, V; Duyckaerts, C; Edgren, G; ... De Strooper, B; + view all (2020) Potential human transmission of amyloid β pathology: surveillance and risks. The Lancet Neurology , 19 (10) pp. 872-878. 10.1016/S1474-4422(20)30238-6. Green open access
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Laverse, E; Guo, T; Zimmerman, K; Foiani, MS; Velani, B; Morrow, P; Adejuwon, A; ... Morris, HR; + view all (2020) Plasma glial fibrillary acidic protein and neurofilament light chain, but not tau, are biomarkers of sports-related mild traumatic brain injury. Brain Communications , 2 (2) , Article fcaa137. 10.1093/braincomms/fcaa137. Green open access
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Ling, H; Gelpi, E; Davey, K; Jaunmuktane, Z; Mok, KY; Jabbari, E; Simone, R; ... Revesz, T; + view all (2020) Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates. Acta Neuropathologica 10.1007/s00401-019-02119-4. (In press). Green open access
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Liu, W; Taso, O; Wang, R; Bayram, S; Graham, AC; Garcia-Reitboeck, P; Mallach, A; ... Salih, DA; + view all (2020) Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions. Human Molecular Genetics 10.1093/hmg/ddaa209. (In press). Green open access
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Mencacci, NE; Reynolds, R; Ruiz, SG; Vandrovcova, J; Forabosco, P; Sánchez-Ferrer, A; Volpato, V; ... Ryten, M; + view all (2020) Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders. Brain , Article awaa217. 10.1093/brain/awaa217. (In press). Green open access
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Noyce, A; (2020) Parkinson’s disease determinants, prediction and gene-environment interactions in the UK Biobank. Journal of Neurology, Neurosurgery and Psychiatry , 91 (10) pp. 1046-1054. 10.1136/jnnp-2020-323646. Green open access
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Orme, T; Hernandez, D; Ross, OA; Kun-Rodrigues, C; Darwent, L; Shepherd, CE; Parkkinen, L; ... Bras, J; + view all (2020) Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications , 8 (1) , Article 5. 10.1186/s40478-020-0879-z. Green open access
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Reiman, EM; Arboleda-Velasquez, JF; Quiroz, YT; Huentelman, MJ; Beach, TG; Caselli, RJ; Chen, Y; ... Alzheimer’s Disease Genetics Consortium; + view all (2020) Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nature Communications , 11 , Article 667. 10.1038/s41467-019-14279-8. Green open access
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Sandberg, A; Ling, H; Gearing, M; Dombroski, B; Cantwell, L; R'Bibo, L; Levey, A; ... Mok, KY; + view all (2020) Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R. Neurobiology of Disease , 146 , Article 105079. 10.1016/j.nbd.2020.105079. Green open access
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Shadrin, AA; Mucha, S; Ellinghaus, D; Makarious, MB; Blauwendraat, C; Sreelatha, AAK; Heras-Garvin, A; ... Sharma, M; + view all (2020) Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease. Movement Disorders 10.1002/mds.28338. (In press). Green open access
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Sng, Letitia MF; Thomson, Peter C; Trabzuni, Daniah; (2020) Comparison Between Expression Microarrays and RNA-Sequencing Using UKBEC Dataset Identified a trans-eQTL Associated with MPZ Gene in Substantia Nigra. Advances in Neurology and Neuroscience Research , 1 , Article 100001. Green open access
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Startin, CM; D'Souza, H; Ball, G; Hamburg, S; Hithersay, R; Hughes, KMO; Massand, E; ... Strydom, A; + view all (2020) Health comorbidities and cognitive abilities across the lifespan in Down syndrome. Journal of Neurodevelopmental Disorders , 12 , Article 4. 10.1186/s11689-019-9306-9. Green open access
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Tan, MMX; Lawton, MA; Jabbari, E; Reynolds, RH; Iwaki, H; Blauwendraat, C; Kanavou, S; ... Morris, HR; + view all (2020) Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease. Movement Disorders 10.1002/mds.28342. (In press). Green open access
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Thomas, MSC; Ojinaga Alfageme, O; D'Souza, H; Patkee, PA; Rutherford, MA; Mok, KY; Hardy, J; ... LonDownS Consortium; + view all (2020) A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment. Research in Developmental Disabilities , 104 , Article 103638. 10.1016/j.ridd.2020.103638. Green open access
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Tomkins, J; Ferrari, R; Vavouraki, N; Hardy, J; Lovering, R; Lewis, P; McGuffin, L; (2020) PINOT: An Intuitive Resource for Integrating Protein-Protein Interactions. Cell Communication and Signaling , 18 , Article 92. 10.1186/s12964-020-00554-5. Green open access
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van der Lee, SJ; Conway, OJ; Jansen, I; Carrasquillo, MM; Kleineidam, L; van den Akker, E; Hernández, I; ... Holstege, H; + view all (2020) Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. [Corrigendum]. Acta Neuropathologica 10.1007/s00401-019-02107-8. (In press). Green open access
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Zhang, D; Guelfi, S; Garcia-Ruiz, S; Costa, B; Reynolds, RH; D’Sa, K; Liu, W; ... Ryten, M; + view all (2020) Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. Science Advances , 6 (24) , Article eaay8299. 10.1126/sciadv.aay8299. Green open access
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Zhou, X; Chen, Y; Ip, FCF; Lai, NCH; Li, YYT; Jiang, Y; Zhong, H; ... Ip, NY; + view all (2020) Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population. Alzheimers Dement (Amst) , 12 (1) , Article e12074. 10.1002/dad2.12074. Green open access
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2019

Arber, C; Villegas-Llerena, C; Toombs, J; Pocock, JM; Ryan, NS; Fox, NC; Zetterberg, H; ... Wray, S; + view all (2019) Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout. Brain Communications 10.1093/braincomms/fcz024. (In press). Green open access
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Baker, E; Sims, R; Leonenko, G; Frizzati, A; Harwood, JC; Grozeva, D; GERAD/PERADES, .; ... Escott-Price, V; + view all (2019) Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease. PLoS One , 14 (7) , Article e0218111. 10.1371/journal.pone.0218111. Green open access
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Bandres-Ciga, S; Ahmed, S; Sabir, MS; Blauwendraat, C; Adarmes-Gomez, AD; Bernal-Bernal, I; Bonilla-Toribio, M; ... Singleton, A; + view all (2019) The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Movement Disorders 10.1002/mds.27864. (In press).

Bandres-Ciga, S; Noyce, AJ; Hemani, G; Nicolas, A; Calvo, A; Mora, G; Tienari, PJ; ... Traynor, BJ; + view all (2019) Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis. Annals of Neurology , 85 (4) pp. 470-481. 10.1002/ana.25431. Green open access
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Bandres-Ciga, S; Saez-Atienzar, S; Bonet-Ponce, L; Billingsley, K; Vitale, D; Blauwendraat, C; Gibbs, JR; ... Singleton, AB; + view all (2019) The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease. Movement Disorders , 34 (4) pp. 460-468. 10.1002/mds.27614.

Billingsley, KJ; Barbosa, IA; Bandrés-Ciga, S; Quinn, JP; Bubb, VJ; Deshpande, C; Botia, JA; ... Koks, S; + view all (2019) Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. npj Parkinson's Disease , 5 , Article 8. 10.1038/s41531-019-0080-x. Green open access
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Blauwendraat, C; Heilbron, K; Vallerga, CL; Bandres-Ciga, S; von Coelln, R; Pihlstrøm, L; Simón-Sánchez, J; ... International Parkinson's Disease Genomics Consortium (IPDGC); + view all (2019) Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms. Movement Disorders 10.1002/mds.27659. (In press).

Bonham, LW; Steele, NZR; Karch, CM; Broce, I; Geier, EG; Wen, NL; Momeni, P; ... International FTD-Genomics Consortium (IFGC), .; + view all (2019) Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Scientific Reports , 9 , Article 10854. 10.1038/s41598-019-46415-1. Green open access
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Chaudhury, S; Brookes, KJ; Patel, T; Fallows, A; Guetta-Baranes, T; Turton, JC; Guerreiro, R; ... Thomas, AJ; + view all (2019) Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment. Translational Psychiatry , 9 , Article 154. 10.1038/s41398-019-0485-7. Green open access
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Escott-Price, V; Baker, E; Shoai, M; Leonenko, G; Myers, AJ; Huentelman, M; Hardy, J; (2019) Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls. Neurobiology of Aging , 77 pp. 178-182. 10.1016/j.neurobiolaging.2018.12.002. Green open access
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Escott-Price, V; Myers, A; Huentelman, M; Shoai, M; Hardy, J; (2019) Polygenic Risk Score Analysis of Alzheimer’s Disease in Cases without APOE4 or APOE2 Alleles. The Journal of Prevention of Alzheimer’s Disease , 6 (1) pp. 16-19. 10.14283/jpad.2018.46. Green open access
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Guelfi, S; Botia, JA; Thom, M; Ramasamy, A; Perona, M; Stanyer, L; Martinian, L; ... Matarin, M; + view all (2019) Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy. Brain , 142 (6) pp. 1616-1630. 10.1093/brain/awz074. Green open access
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Guerreiro, R; Escott-Price, V; Hernandez, DG; Kun-Rodrigues, C; Ross, OA; Orme, T; Neto, JL; ... Bras, J; + view all (2019) Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease , 127 pp. 492-501. 10.1016/j.nbd.2019.04.004. Green open access
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Guven, G; Bilgic, B; Tufekcioglu, Z; Erginel Unaltuna, N; Hanagasi, H; Gurvit, H; Singleton, A; ... Lohmann, E; + view all (2019) Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia. Journal of Alzheimer's Disease , 67 (1) pp. 159-167. 10.3233/JAD-180599. Green open access
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Hardy, J; (2019) Failures in Protein Clearance Partly Underlie Late Onset Neurodegenerative Diseases and Link Pathology to Genetic Risk. Frontiers in Neuroscience , 13 , Article 1304. 10.3389/fnins.2019.01304. Green open access
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Hardy, J; Escott-Price, V; (2019) Genes, pathways and risk prediction in Alzheimer's disease. Human Molecular Genetics , 28 (R2) R235-R240. 10.1093/hmg/ddz163. Green open access
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Heinzel, S; Berg, D; Gasser, T; Chen, H; Yao, C; Postuma, RB; Adler, CH; ... Stern, M; + view all (2019) Update of the MDS research criteria for prodromal Parkinson's disease. Movement Disorders , 34 (10) pp. 1464-1470. 10.1002/mds.27802. Green open access
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Hithersay, R; Startin, CM; Hamburg, S; Mok, KY; Hardy, J; Fisher, EMC; Tybulewicz, VLJ; ... Strydom, A; + view all (2019) Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years. JAMA Neurology , 76 (2) pp. 152-160. 10.1001/jamaneurol.2018.3616. Green open access
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Hu, Y; Li, M; Lu, Q; Weng, H; Wang, J; Zekavat, SM; Yu, Z; ... Yu, L; + view all (2019) A statistical framework for cross-tissue transcriptome-wide association analysis. Nature Genetics , 51 (3) pp. 568-576. 10.1038/s41588-019-0345-7. Green open access
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Huentelman, M; De Both, M; Jepsen, W; Piras, IS; Talboom, JS; Willeman, M; Reiman, EM; ... Myers, AJ; + view all (2019) Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers. Scientific Reports , 9 , Article 9640. 10.1038/s41598-019-45896-4. Green open access
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Jansen, IE; Savage, JE; Watanabe, K; Bryois, J; Williams, DM; Steinberg, S; Sealock, J; ... Posthuma, D; + view all (2019) Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. Nature Genetics , 51 pp. 404-413. 10.1038/s41588-018-0311-9. Green open access
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Kun-Rodrigues, C; Orme, T; Carmona, S; Hernandez, DG; Ross, OA; Eicher, JD; Shepherd, C; ... Bras, J; + view all (2019) A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of Aging , 75 , Article 223.e1-223.e10. 10.1016/j.neurobiolaging.2018.10.019. Green open access
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Kunkle, BW; Grenier-Boley, B; Sims, R; Bis, JC; Damotte, V; Naj, AC; Boland, A; ... Pericak-Vance, MA; + view all (2019) Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics , 51 pp. 414-430. 10.1038/s41588-019-0358-2. Green open access
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Leonenko, G; Shoai, M; Bellou, E; Sims, R; Williams, J; Hardy, J; Escott-Price, V; (2019) Genetic risk for alzheimer disease is distinct from genetic risk for amyloid deposition. Annals of Neurology , 86 (3) pp. 427-435. 10.1002/ana.25530. Green open access
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Leonenko, G; Sims, R; Shoai, M; Frizzati, A; Bossu, P; Spalletta, G; Fox, NC; ... Munger, R; + view all (2019) Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of Clinical and Translational Neurology , 6 (3) pp. 456-465. 10.1002/acn3.716. Green open access
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Ma, Y; Jun, GR; Chung, J; Zhang, X; Kunkle, BW; Naj, AC; White, CC; ... Yu, L; + view all (2019) CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease. Aging Cell , 18 (4) , Article e12964. 10.1111/acel.12964. Green open access
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Malek, N; Kanavou, S; Lawton, MA; Pitz, V; Grosset, KA; Bajaj, N; Barker, RA; ... PRoBaND clinical consortium; + view all (2019) L-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progression. Parkinsonism & Related Disorders , 65 pp. 55-61. 10.1016/j.parkreldis.2019.05.022. Green open access
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Marini, S; Crawford, K; Morotti, A; Lee, MJ; Pezzini, A; Moomaw, CJ; Flaherty, ML; ... Sheth, K; + view all (2019) Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity: A Meta-analysis. JAMA Neurology , 76 (4) pp. 480-491. 10.1001/jamaneurol.2018.4519. Green open access
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Nalls, MA; Blauwendraat, C; Vallerga, CL; Heilbron, K; Bandres-Ciga, S; Chang, D; Tan, M; ... Guerreiro, R; + view all (2019) Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet Neurology , 18 (12) pp. 1091-1102. 10.1016/S1474-4422(19)30320-5. Green open access
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Noyce, AJ; Bandres-Ciga, S; Kim, J; Heilbron, K; Kia, D; Hemani, G; Xue, A; ... Singleton, AB; + view all (2019) The Parkinson's Disease Mendelian Randomization Research Portal. Movement Disorders 10.1002/mds.27873. (In press). Green open access
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Paonessa, F; Evans, LD; Solanki, R; Larrieu, D; Wray, S; Hardy, J; Jackson, SP; (2019) Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia. Cell Reports , 26 (3) pp. 582-593. 10.1016/j.celrep.2018.12.085. Green open access
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Piers, TM; Cosker, K; Mallach, A; Johnson, GT; Guerreiro, R; Hardy, J; Pocock, JM; (2019) A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC-derived microglia. FASEB Journal 10.1096/fj.201902447R. Green open access
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Raffaele, F; Claudia, M; John, H; (2019) Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues. Neurobiology of Aging , 78 pp. 98-110. 10.1016/j.neurobiolaging.2019.02.006. Green open access
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Reynolds, RH; Botía, J; Nalls, MA; International Parkinson’s Disease Genomics Consortium (IPDGC), .; System Genomics of Parkinson’s Disease (SGPD), .; Hardy, J; Gagliano Taliun, SA; (2019) Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability. NPJ Parkinson's Disease , 5 , Article 6. 10.1038/s41531-019-0076-6. Green open access
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Reynolds, RH; Hardy, J; Ryten, M; Gagliano Taliun, SA; (2019) Informing disease modelling with brain-relevant functional genomic annotations. Brain 10.1093/brain/awz295. (In press). Green open access
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Salih, DA; Bayram, S; Guelfi, S; Reynolds, RH; Shoai, M; Ryten, M; Brenton, J; ... Hardy, J; + view all (2019) Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications 10.1093/braincomms/fcz022. (In press). Green open access
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Singleton, A; Hardy, J; (2019) Progress in the genetic analysis of Parkinson’s disease. Human Molecular Genetics , 28 (R2) R215-R218. 10.1093/hmg/ddz183. Green open access
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Sjödin, S; Brinkmalm, G; Öhrfelt, A; Parnetti, L; Paciotti, S; Hansson, O; Hardy, J; ... Brinkmalm, A; + view all (2019) Endo-lysosomal proteins and ubiquitin CSF concentrations in Alzheimer's and Parkinson's disease. Alzheimer's Research & Therapy , 11 , Article 82. 10.1186/s13195-019-0533-9. Green open access
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Startin, CM; Ashton, NJ; Hamburg, S; Hithersay, R; Wiseman, FK; Mok, KY; Hardy, J; ... Strydom, A; + view all (2019) Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease. Alzheimer's Research & Therapy , 11 , Article 26. 10.1186/s13195-019-0477-0. Green open access
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Startin, CM; Hamburg, S; Strydom, A; Strydom, A; Fisher, E; Nizetic, D; Hardy, J; ... Karmiloff-Smith, A; + view all (2019) Comparison of Receptive Verbal Abilities Assessed Using the KBIT-2 and BPVS3 in Adults With Down Syndrome. Frontiers in Psychology , 9 , Article 2730. 10.3389/fpsyg.2018.02730. Green open access
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Startin, CM; Lowe, B; Hamburg, S; Hithersay, R; Strydom, A; Fisher, E; Nizetic, D; ... Karmiloff-Smith, A; + view all (2019) Validating the Cognitive Scale for Down Syndrome (CS-DS) to Detect Longitudinal Cognitive Decline in Adults With Down Syndrome. Frontiers in Psychiatry , 10 , Article 158. 10.3389/fpsyt.2019.00158. Green open access
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Sundal, C; Carmona, S; Yhr, M; Almström, O; Ljungberg, M; Hardy, J; Hedberg-Oldfors, C; ... Guerreiro, R; + view all (2019) An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. Acta Neuropathologica Communications , 7 , Article 188. 10.1186/s40478-019-0843-y. Green open access
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Swarup, V; Hinz, FI; Rexach, JE; Noguchi, K-I; Toyoshiba, H; Oda, A; Hirai, K; ... Geschwind, DH; + view all (2019) Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. Nature Medicine , 25 (1) pp. 152-164. 10.1038/s41591-018-0223-3. Green open access
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Tan, MMX; Malek, N; Lawton, MA; Hubbard, L; Pittman, AM; Joseph, T; Hehir, J; ... Morris, HR; + view all (2019) Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study. Brain 10.1093/brain/awz191. (In press). Green open access
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Vadgama, N; Lamont, D; Hardy, J; Nasir, J; Lovering, RC; (2019) Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke. Molecular and Cellular Biochemistry , 456 pp. 157-165. 10.1007/s11010-019-03501-2. Green open access
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Vadgama, N; Pittman, A; Simpson, M; Nirmalananthan, N; Murray, R; Yoshikawa, T; De Rijk, P; ... Nasir, J; + view all (2019) De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. European Journal of Human Genetics , 27 (7) pp. 1121-1133. 10.1038/s41431-019-0376-7. Green open access
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Vollstedt, E-J; Kasten, M; Klein, C; MJFF Global Genetic Parkinson's Disease Study Group; (2019) Using global team science to identify genetic parkinson's disease worldwide. Annals of Neurology , 86 (2) pp. 153-157. 10.1002/ana.25514. Green open access
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Walton, E; Hibar, D; Yilmaz, Z; Jahanshad, N; Cheung, J; Batury, V-L; Seitz, J; ... Bulik, CM; + view all (2019) Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa. Molecular Neurobiology , 56 (7) pp. 5146-5156. 10.1007/s12035-018-1439-4. Green open access
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Zhou, X; Chen, Y; Mok, KY; Kwok, TCY; Mok, VCT; Guo, Q; Ip, FC; ... Furst, AJ; + view all (2019) Non-coding variability at the APOE locus contributes to the Alzheimer's risk. Nature Communications , 10 , Article 3310. 10.1038/s41467-019-10945-z. Green open access
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2018

Blauwendraat, C; Kia, DA; Pihlstrom, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; ... Wood, NW; + view all (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging , 64 159.e5-159.e8. 10.1016/j.neurobiolaging.2017.12.012. Green open access
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Blauwendraat, C; Reed, X; Kia, DA; Gan-Or, Z; Lesage, S; Pihlstrøm, L; Guerreiro, R; ... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all (2018) Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurology 10.1001/jamaneurol.2018.1885. (In press).

Bonham, LW; Karch, CM; Fan, CC; Tan, C; Geier, EG; Wang, Y; Wen, N; ... International Genomics of Alzheimer’s Project (IGAP); + view all (2018) CXCR4 involvement in neurodegenerative diseases. Translational Psychiatry , 8 (1) , Article 73. 10.1038/s41398-017-0049-7. Green open access
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Bonham, LW; Steele, NZR; Karch, CM; Manzoni, C; Geier, EG; Wen, N; Ofori-Kuragu, A; ... International FTD-Genomics Consortium (IFGC); + view all (2018) Protein network analysis reveals selectively vulnerable regions and biological processes in FTD. Neurology Genetics , 4 (5) , Article e266. 10.1212/NXG.0000000000000266. Green open access
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Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; ... Sugrue, LP; + view all (2018) Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Medicine , 15 (1) , Article e1002487. 10.1371/journal.pmed.1002487. Green open access
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Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; ... Sugrue, LP; + view all (2018) Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Medicine , 15 (1) , Article e1002504. 10.1371/journal.pmed.1002504. Green open access
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Brookes, KJ; McConnell, G; Williams, K; Chaudhury, S; Madhan, G; Patel, T; Turley, C; ... Morgan, K; + view all (2018) Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort. Journal of Alzheimer's Disease , 64 (2) pp. 355-362. 10.3233/JAD-180191. Green open access
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Brownjohn, PW; Smith, J; Solanki, R; Lohmann, E; Houlden, H; Hardy, J; Dietmann, S; (2018) Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia. Stem Cell Reports , 10 (4) pp. 1294-1307. 10.1016/j.stemcr.2018.03.003. Green open access
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Chaudhury, S; Patel, T; Barber, IS; Guetta-Baranes, T; Brookes, KJ; Chappell, S; Turton, J; ... Morgan, K; + view all (2018) Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease. Neurobiology of Aging , 62 244.e1-244.e8. 10.1016/j.neurobiolaging.2017.09.035. Green open access
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Deming, Y; Dumitrescu, L; Barnes, LL; Thambisetty, M; Kunkle, B; Gifford, KA; Bush, WS; ... Hohman, TJ; + view all (2018) Sex-specific genetic predictors of Alzheimer's disease biomarkers. Acta Neuropathologica 10.1007/s00401-018-1881-4. (In press). Green open access
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Ferrari, R; Kia, DA; Tomkins, JE; Hardy, J; Wood, NW; Lovering, RC; Lewis, PA; (2018) Stratification of candidate genes for Parkinson's disease using weighted protein-protein interaction network analysis. BMC Genomics , 19 , Article 452. 10.1186/s12864-018-4804-9. Green open access
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Firth, NC; Startin, CM; Hithersay, R; Hamburg, S; Wijeratne, PA; Mok, KY; Hardy, J; ... Strydom, A; + view all (2018) Aging related cognitive changes associated with Alzheimer's disease in Down syndrome. Annals of Clinical and Translational Neurology , 5 (6) pp. 741-751. 10.1002/acn3.571. Green open access
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Fu, H; Hardy, J; Duff, KE; (2018) Selective vulnerability in neurodegenerative diseases. Nature Neuroscience , 21 (10) pp. 1350-1358. 10.1038/s41593-018-0221-2. Green open access
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Garcia-Reitboeck, P; Phillips, A; Piers, TM; Villegas-Llerena, C; Butler, M; Mallach, A; Rodrigues, C; ... Pocock, JM; + view all (2018) Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis. Cell Reports , 24 (9) pp. 2300-2311. 10.1016/j.celrep.2018.07.094. Green open access
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Guerreiro, R; Orme, T; Neto, JL; Bras, J; International DLB Genetics Consortium, .; (2018) LRP10 in alpha-synucleinopathies. Lancet Neurology , 17 (12) pp. 1032-1033. 10.1016/S1474-4422(18)30399-5. Green open access
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Guerreiro, R; Ross, OA; Kun-Rodrigues, C; Hernandez, DG; Orme, T; Eicher, JD; Shepherd, CE; ... Bras, J; + view all (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. The Lancet Neurology , 17 (1) pp. 64-74. 10.1016/S1474-4422(17)30400-3. Green open access
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Hardy, J; (2018) Neurodegeneration: the first mechanistic therapy and other progress in 2017. [Editorial comment]. The Lancet Neurology , 17 (1) pp. 3-5. 10.1016/S1474-4422(17)30414-3. Green open access
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Hartl, D; May, P; Gu, W; Mayhaus, M; Pichler, S; Spaniol, C; Glaab, E; ... AESG; + view all (2018) A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. Molecular Psychiatry 10.1038/s41380-018-0091-8. (In press). Green open access
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Hohman, TJ; Dumitrescu, L; Barnes, LL; Thambisetty, M; Beecham, G; Kunkle, B; Gifford, KA; ... Jefferson, AL; + view all (2018) Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau. JAMA Neurology , 75 (8) pp. 989-998. 10.1001/jamaneurol.2018.0821.

Ip, HF; Jansen, R; Abdellaoui, A; Bartels, M; UK Brain Expression Consortium, .; Boomsma, DI; Nivard, MG; (2018) Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity. Behavior Genetics , 48 (5) pp. 374-385. 10.1007/s10519-018-9914-2. Green open access
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Jabbari, E; Woodside, J; Tan, MMX; Shoai, M; Pittman, A; Ferrari, R; Mok, KY; ... Morris, HR; + view all (2018) Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype. Annals of Neurology , 84 (4) pp. 485-496. 10.1002/ana.25308. Green open access
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Karch, CM; Wen, N; Fan, CC; Yokoyama, JS; Kouri, N; Ross, OA; Höglinger, G; ... International Frontotemporal Dementia (FTD)–Genomics Consortium,; + view all (2018) Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA Neurol 10.1001/jamaneurol.2018.0372. (In press).

Lane, CA; Hardy, J; Schott, JM; (2018) Alzheimer's disease. European Journal of Neurology , 25 (1) pp. 59-70. 10.1111/ene.13439. Green open access
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Liu, W; Taso, O; Wang, R; Garcia-Reitboeck, P; Andrews, WD; Piers, TM; Pocock, JM; ... Salih, D; + view all (2018) Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions. bioRxiv Green open access
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Malek, N; Weil, RS; Bresner, C; Lawton, MA; Grosset, KA; Tan, M; Bajaj, N; ... PRoBaND clinical consortium; + view all (2018) Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study. Journal of Neurology, Neurosurgery, and Psychiatry , 89 (7) pp. 702-709. 10.1136/jnnp-2017-317348. Green open access
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Manzoni, C; Kia, DA; Vandrovcova, J; Hardy, J; Wood, NW; Lewis, PA; Ferrari, R; (2018) Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences. Briefings in Bioinformatics , 19 (2) pp. 286-302. 10.1093/bib/bbw114. Green open access
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Manzoni, C; Mamais, A; Dihanich, S; Soutar, MPM; Plun-Favreau, H; Bandopadhyay, R; Abeti, R; ... Lewis, PA; + view all (2018) mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition. Bioscience Reports , 38 (2) , Article BSR20171669. 10.1042/BSR20171669. Green open access
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Murray, Christina Elizabeth; (2018) The role of TREM2 in neurodegeneration. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Nethisinghe, S; Lim, WN; Ging, H; Zeitlberger, A; Abeti, R; Pemble, S; Sweeney, MG; ... Giunti, P; + view all (2018) Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. Frontiers in Cellular Neuroscience , 12 , Article 429. 10.3389/fncel.2018.00429. Green open access
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Nicolas, A; Kenna, KP; Renton, AE; Ticozzi, N; Faghri, F; Chia, R; Dominov, JA; ... Landers, JE; + view all (2018) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron , 97 (6) 1268-1283.e6. 10.1016/j.neuron.2018.02.027. Green open access
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Pasanen, P; Myllykangas, L; Pöyhönen, M; Kiviharju, A; Siitonen, M; Hardy, J; Bras, J; ... Verkkoniemi-Ahola, A; + view all (2018) Genetics of dementia in a Finnish cohort. Eur J Hum Genet 10.1038/s41431-018-0117-3. (In press). Green open access
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Patel, T; Brookes, KJ; Turton, J; Chaudhury, S; Guetta-Baranes, T; Guerreiro, R; Bras, J; ... Morgan, K; + view all (2018) Whole‐exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease. Neuropathology and Applied Neurobiology , 44 (5) pp. 506-521. 10.1111/nan.12452. Green open access
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Peloso, GM; van der Lee, SJ; Sims, R; van der Lee, SJ; Naj, AC; Bellenguez, C; Badarinarayan, N; ... Crane, PK; + view all (2018) Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease. Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring , 10 pp. 595-598. 10.1016/j.dadm.2018.08.008. Green open access
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Petyuk, VA; Chang, R; Ramirez-Restrepo, M; Beckmann, ND; Henrion, MYR; Piehowski, PD; Zhu, K; ... Myers, AJ; + view all (2018) The human brainome: network analysis identifies HSPA2 as a novel Alzheimer's disease target. Brain , 141 (9) pp. 2721-2739. 10.1093/brain/awy215. Green open access
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Piers, TM; East, E; Villegas-Llerena, C; Sevastou, IG; Matarin, M; Hardy, J; Pocock, JM; (2018) Soluble Fibrinogen Triggers Non-cell Autonomous ER Stress-Mediated Microglial-Induced Neurotoxicity. Frontiers in Cellular Neuroscience , 12 , Article 404. 10.3389/fncel.2018.00404. Green open access
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Pihlstrom, L; Schottlaender, L; Chelban, V; Houlden, H; (2018) LRP10 in alpha-synucleinopathies. Lancet Neurology , 17 (12) pp. 1033-1034. 10.1016/S1474-4422(18)30407-1. Green open access
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Pottier, C; Zhou, X; Perkerson, RB; Baker, M; Jenkins, GD; Serie, DJ; Ghidoni, R; ... Rademakers, R; + view all (2018) Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet Neurology , 17 (6) pp. 548-558. 10.1016/S1474-4422(18)30126-1. Green open access
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Pulit, SL; Weng, L-C; McArdle, PF; Trinquart, L; Choi, SH; Mitchell, BD; Rosand, J; ... Sheth, K; + view all (2018) Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes. Neurology Genetics , 4 (6) , Article e293. 10.1212/NXG.0000000000000293. Green open access
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Rosenthal, EA; Shirts, BH; Amendola, LM; Horike-Pyne, M; Robertson, PD; Hisama, FM; Bennett, RL; ... NHLBI GO Exome Sequencing Project; + view all (2018) Rare loss of function variants in candidate genes and risk of colorectal cancer. Human Genetics , 137 (10) pp. 795-806. 10.1007/s00439-018-1938-4. Green open access
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Rusbridge, C; Salguero, FJ; David, MA; Faller, KME; Bras, JT; Guerreiro, RJ; Richard-Londt, AC; ... Tayebi, M; + view all (2018) An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers. Frontiers in Aging Neuroscience , 10 , Article 7. 10.3389/fnagi.2018.00007. Green open access
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Salih, D; Bayram, S; Guelfi, MS; Reynolds, RH; Shoai, M; Ryten, M; Brenton, J; ... Escott-Price, V; + view all (2018) Genetic variability in response to Aβ deposition influences Alzheimer's risk. BioRxiv: Cold Spring Harbor, NY, USA. Green open access
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Sassi, C; Nalls, MA; Ridge, PG; Gibbs, JR; Lupton, MK; Troakes, C; Lunnon, K; ... Hardy, J; + view all (2018) Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiology Aging 10.1016/j.neurobiolaging.2018.01.015. Green open access
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Startin, CM; Hamburg, S; Hithersay, R; Al-Janabi, T; Mok, KY; Hardy, J; LonDownS Consortium, .; (2018) Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome. Alzheimer's & Dementia 10.1016/j.jalz.2018.08.009. (In press). Green open access
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Strydom, A; Coppus, A; Blesa, R; Danek, A; Fortea, J; Hardy, J; Levin, J; ... Zetterberg, H; + view all (2018) Alzheimer's disease in Down syndrome: An overlooked population for prevention trials. Alzheimer's and Dementia: Translational Research and Clinical Interventions , 4 pp. 703-713. 10.1016/j.trci.2018.10.006. Green open access
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Strydom, A; Heslegrave, A; Startin, CM; Mok, KY; Hardy, J; Groet, J; Nizetic, D; ... LonDownS Consortium; + view all (2018) Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome. Alzheimer's Research & Therapy , 10 (1) , Article 39. 10.1186/s13195-018-0367-x. Green open access
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Vlachakis, D; Labrou, NE; Iliopoulos, C; Hardy, J; Lewis, PA; Rideout, H; Trabzuni, D; (2018) Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2. International Journal of Molecular Sciences , 19 (9) , Article 2784. 10.3390/ijms19092784. Green open access
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Wiseman, FK; Pulford, LJ; Barkus, C; Liao, F; Portelius, E; Webb, R; Chávez-Gutiérrez, L; ... Fisher, EMC; + view all (2018) Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP. Brain , 141 (8) pp. 2457-2474. 10.1093/brain/awy159. Green open access
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Yaldizli, Ö; Sethi, V; Pardini, M; Tur, C; Mok, KY; Muhlert, N; Liu, Z; ... Chard, DT; + view all (2018) Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. Multiple Sclerosis and Related Disorders , 19 pp. 168-170. 10.1016/j.msard.2016.08.006. Green open access
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Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; Sato, C; ... International FTD-Genomics Consortium (IFGC), .; + view all (2018) A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain , 141 (10) pp. 2895-2907. 10.1093/brain/awy238. Green open access
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Zhou, X; Chen, Y; Mok, KY; Zhao, Q; Chen, K; Chen, Y; Hardy, J; ... Ip, NY; + view all (2018) Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis. Proceedings of the National Academy of Sciences of the United States of America , 115 (8) pp. 1697-1706. 10.1073/pnas.1715554115. Green open access
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2017

Arber, C; Angelova, PR; Wiethoff, S; Tsuchiya, Y; Mazzacuva, F; Preza, E; Bhatia, KP; ... Wray, S; + view all (2017) iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. PLoS One , 12 (9) , Article e0184104. 10.1371/journal.pone.0184104. Green open access
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Barber, IS; Braae, A; Clement, N; Patel, T; Guetta-Baranes, T; Brookes, K; Medway, C; ... ARUK Consortium, .; + view all (2017) Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging , 49 215.e1-215.e8. 10.1016/j.neurobiolaging.2016.09.008. Green open access
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Bartolome, F; Esteras, N; Martin-Requero, A; Boutoleau-Bretonniere, C; Vercelletto, M; Gabelle, A; Le Ber, I; ... Abramov, AY; + view all (2017) Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates. Science Reports , 7 , Article 1666. 10.1038/s41598-017-01678-4. Green open access
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Blauwendraat, C; Faghri, F; Pihlstrom, L; Geiger, JT; Elbaz, A; Lesage, S; Corvol, J-C; ... Scholz, S; + view all (2017) NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging , 57 247.e9-247.e13. 10.1016/j.neurobiolaging.2017.05.009. Green open access
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Botía, JA; Vandrovcova, J; Forabosco, P; Guelfi, S; D'Sa, K; United Kingdom Brain Expression Consortium, .; Hardy, J; ... Weale, ME; + view all (2017) An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks. BMC Systems Biology , 11 , Article 47. 10.1186/s12918-017-0420-6. Green open access
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Darwent, L; Carmona, S; Lohmann, E; Guven, G; Kun-Rodrigues, C; Bilgic, B; Hanagasi, H; ... Guerreiro, R; + view all (2017) Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiology of Aging , 58 240.e1-240.e3. 10.1016/j.neurobiolaging.2017.06.019. Green open access
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Davis, DHJ; Muniz- Terrera, G; Keage, HAD; Blossom, SCM; Fleming, J; Ince, PG; Matthews, FE; ... EClipSE, Collaborative Members; + view all (2017) Association of Delirium With Cognitive Decline in Late Life: A Neuropathologic Study of 3 Population-Based Cohort Studies. JAMA Psychiatry , 74 (3) pp. 244-251. 10.1001/jamapsychiatry.2016.3423. Green open access
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Desikan, RS; Fan, CC; Wang, Y; Schork, AJ; Cabra, HJ; Cupples, LA; Thompson, WK; ... Dale, AM; + view all (2017) Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. PLOS Medicine , 14 (3) , Article e1002258. 10.1371/journal.pmed.1002258. Green open access
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Escott-Price, V; Shoai, M; Pither, R; Williams, J; Hardy, J; (2017) Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease. Neurobiology of Aging , 49 214.e7-214.e11. 10.1016/j.neurobiolaging.2016.07.018. Green open access
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Espuny-Camacho, I; Arranz, AM; Fiers, M; Snellinx, A; Ando, K; Munck, S; Bonnefont, J; ... De Strooper, B; + view all (2017) Hallmarks of Alzheimer's Disease in Stem-Cell-Derived Human Neurons Transplanted into Mouse Brain. Neutron , 93 (5) , Article e8. 10.1016/j.neuron.2017.02.001. Green open access
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Esteras, N; Rohrer, JD; Hardy, J; Wray, S; Abramov, AY; (2017) Mitochondrial hyperpolarization in iPSC-derived neurons from patients of FTDP-17 with 10+16 MAPT mutation leads to oxidative stress and neurodegeneration. Redox Biology , 12 pp. 410-422. 10.1016/j.redox.2017.03.008. Green open access
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Ferrari, R; Grassi, M; Graziano, F; Palluzzi, F; Archetti, S; Bonomi, E; Bruni, AC; ... Borroni, B; + view all (2017) Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. Journal of Alzheimer's Disease , 56 (4) pp. 1271-1278. 10.3233/JAD-160949. Green open access
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Ferrari, R; Lovering, RC; Hardy, J; Lewis, PA; Manzoni, C; (2017) Weighted Protein Interaction Network Analysis of Frontotemporal Dementia. Journal of Proteome Research , 16 (2) pp. 999-1013. 10.1021/acs.jproteome.6b00934. Green open access
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Ferrari, R; Wang, Y; Vandrovcova, J; Guelfi, S; Witeolar, A; Karch, CM; Schork, AJ; ... Desikan, RS; + view all (2017) Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases. Journal of Neurology, Neurosurgery and Psychiatry , 88 (2) pp. 152-164. 10.1136/jnnp-2016-314411. Green open access
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Geissler, JM; International Parkinson Disease Genomics Consortium members; Romanos, M; Gerlach, M; Berg, D; Schulte, C; (2017) No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs. ADHD Attention Deficit and Hyperactivity Disorders , 9 (2) pp. 121-127. 10.1007/s12402-017-0219-8. Green open access
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Hardy, J; (2017) The discovery of Alzheimer-causing mutations in the APP gene and the formulation of the "amyloid cascade hypothesis". [Review]. FEBS Journal , 284 (7) pp. 1040-1044. 10.1111/febs.14004. Green open access
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Hardy, J; De Strooper, B; (2017) Alzheimer's disease: where next for anti-amyloid therapies? [Editorial comment]. Brain , 140 (4) pp. 853-855. 10.1093/brain/awx059. Green open access
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Hibar, DP; Adams, HH; Jahanshad, N; Chauhan, G; Stein, JL; Hofer, E; Renteria, ME; ... Ikram, MA; + view all (2017) Novel genetic loci associated with hippocampal volume. Nature Communications , 8 , Article 13624. 10.1038/ncomms13624. Green open access
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Jansen, IE; Gibbs, JR; Nalls, MA; Price, TR; Lubbe, S; van Rooij, J; Uitterlinden, AG; ... International Parkinson's Disease Genomics Consortium, .; + view all (2017) Establishing the role of rare coding variants in known Parkinson's disease risk loci. Neurobiology of Aging , 59 220.e11-220.e18. 10.1016/j.neurobiolaging.2017.07.009. Green open access
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Jansen, IE; Ye, H; Heetveld, S; Lechler, MC; Michels, H; Seinstra, RI; Lubbe, SJ; ... Heutink, P; + view all (2017) Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology , 18 , Article 22. 10.1186/s13059-017-1147-9. Green open access
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Jun, GR; Chung, J; Mez, J; Barber, R; Beecham, GW; Bennett, DA; Buxbaum, JD; ... Farrer, LA; + view all (2017) Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's & Dementia , 13 (7) pp. 727-738. 10.1016/j.jalz.2016.12.012. Green open access
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Lane, CA; Parker, TD; Cash, DM; Macpherson, K; Donnachie, E; Murray-Smith, H; Barnes, A; ... Schott, JM; + view all (2017) Study protocol: Insight 46 - a neuroscience sub-study of the MRC National Survey of Health and Development. BMC Neurology , 17 , Article 75. 10.1186/s12883-017-0846-x. Green open access
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Lange, S; Gallagher, M; Kholia, S; Kosgodage, US; Hristova, M; Hardy, J; Inal, JM; (2017) Peptidylarginine Deiminases-Roles in Cancer and Neurodegeneration and Possible Avenues for Therapeutic Intervention via Modulation of Exosome and Microvesicle (EMV) Release? International Journal of Molecular Sciences , 18 (6) , Article 1196. 10.3390/ijms18061196. Green open access
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Ling, H; Morris, HR; Neal, JW; Lees, A; Hardy, J; Holton, JL; Revesz, T; (2017) Mixed pathologies including chronic traumatic encephalopathy account for dementia in retired Association football (soccer) players. Acta Neuropathologica , 133 (3) pp. 337-352. 10.1007/s00401-017-1680-3. Green open access
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Lythe, V; Athauda, D; Foley, J; Mencacci, NE; Jahanshahi, M; Cipolotti, L; Hyam, J; ... Foltynie, T; + view all (2017) GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort. Journal of Parkinson's Disease , 7 (4) pp. 635-644. 10.3233/JPD-171172. Green open access
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Malek, N; Lawton, MA; Grosset, KA; Bajaj, N; Barker, RA; Ben-Shlomo, Y; Burn, DJ; ... PRoBaND Clinical Consortium, .; + view all (2017) Utility of the new Movement Disorder Society clinical diagnostic criteria for Parkinson's disease applied retrospectively in a large cohort study of recent onset cases. Parkinsonism & Related Disorders , 40 pp. 40-46. 10.1016/j.parkreldis.2017.04.006. Green open access
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Malek, N; Lawton, MA; Grosset, KA; Bajaj, N; Barker, RA; Burn, DJ; Foltynie, T; ... Grosset, DG; + view all (2017) Autonomic Dysfunction in Early Parkinson's Disease: Results from the United Kingdom Tracking Parkinson's Study. Movement Disorders Clinical Practice , 4 (4) pp. 509-516. 10.1002/mdc3.12454.

McLaughlin, RL; Schijven, D; Van Rheenen, W; Van Eijk, KR; O'Brien, M; Kahn, RS; Ophoff, RA; ... Cichon, S; + view all (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications , 8 , Article 14774. 10.1038/ncomms14774. Green open access
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Mishra, A; Ferrari, R; Heutink, P; Hardy, J; Pijnenburg, Y; Posthuma, D; (2017) Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia. Brain , 140 (5) pp. 1437-1446. 10.1093/brain/awx066. Green open access
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Morgan, S; Shatunov, A; Sproviero, W; Jones, AR; Shoai, M; Hughes, D; Al Khleifat, A; ... Al-Chalabi, A; + view all (2017) A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain , 140 (6) pp. 1611-1618. 10.1093/brain/awx082. Green open access
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Murthy, MN; Blauwendraat, C; UKBEC; Guelfi, S; IPDGC; Hardy, J; Lewis, PA; (2017) Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3. Neurogenetics 10.1007/s10048-017-0514-8. Green open access
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Noyce, AJ; Kia, DA; Hemani, G; Nicolas, A; Price, TR; De Pablo-Fernandez, E; Haycock, PC; ... Wood, NW; + view all (2017) Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Medicine , 14 (6) , Article e1002314. 10.1371/journal.pmed.1002314. Green open access
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Noyce, AJ; R'Bibo, L; Peress, L; Bestwick, JP; Adams-Carr, KL; Mencacci, NE; Hawkes, CH; ... Schrag, A; + view all (2017) PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease. Movement Disorders , 32 (2) pp. 219-226. 10.1002/mds.26898. Green open access
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Ridge, PG; Karch, CM; Hsu, S; Arano, I; Teerlink, CC; Ebbert, MTW; Gonzalez Murcia, JD; ... Alzheimer’s Disease Neuroimaging Initiative, .; + view all (2017) Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine , 9 , Article 100. 10.1186/s13073-017-0486-1. Green open access
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Robak, LA; Jansen, IE; van Rooij, J; Uitterlinden, AG; Kraaij, R; Jankovic, J; Heutink, P; (2017) Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain , 140 (12) pp. 3191-3203. 10.1093/brain/awx285. Green open access
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Sasaguri, H; Nilsson, P; Hashimoto, S; Nagata, K; Saito, T; De Strooper, B; Hardy, J; ... Saido, TC; + view all (2017) APP mouse models for Alzheimer's disease preclinical studies. The EMBO Journal , 36 , Article e201797397. 10.15252/embj.201797397. Green open access
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Siitonen, M; Börjesson-Hanson, A; Pöyhönen, M; Ora, A; Pasanen, P; Bras, J; Kern, S; ... Louro Guerreiro, RJ; + view all (2017) Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. [Letter]. Brain , 140 (5) , Article e29. 10.1093/brain/awx062. Green open access
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Sims, R; van der Lee, SJ; Naj, AC; Bellenguez, C; Badarinarayan, N; Jakobsdottir, J; Kunkle, BW; ... Schellenberg, GD; + view all (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics , 49 pp. 1373-1384. 10.1038/ng.3916. Green open access
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Singleton, AB; Hardy, JA; Gasser, T; (2017) The Birth of the Modern Era of Parkinson's Disease Genetics. Journal of Parkinsons Disease , 7 S87-S93. 10.3233/JPD-179009. Green open access
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Soreq, L; UK Brain Expression Consortium, .; North American Brain Expression Consortium, .; Rose, J; Soreq, E; Hardy, J; Trabzuni, D; ... Ule, J; + view all (2017) Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging. Cell Reports , 18 (2) pp. 557-570. 10.1016/j.celrep.2016.12.011. Green open access
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Sproviero, W; Shatunov, A; Stahl, D; Shoai, M; van Rheenen, W; Jones, AR; Al-Sarraj, S; ... Al-Chalabi, A; + view all (2017) ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging , 51 178.e1-178.e9. 10.1016/j.neurobiolaging.2016.11.010. Green open access
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Taskesen, E; Mishra, A; Van Der Sluis, S; Ferrari, R; Veldink, JH; Van Es, MA; Smit, AB; ... Pijnenburg, Y; + view all (2017) Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS. Scientific Reports , 7 , Article 8899. 10.1038/s41598-017-09320-z. Green open access
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Valentina, E-P; Amanda, JM; Matt, H; John, H; (2017) Polygenic Risk Score Analysis of Pathologically Confirmed Alzheimer Disease. Annals of Neurology , 82 (2) pp. 311-314. 10.1002/ana.24999. Green open access
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Witoelar, A; Jansen, IE; Wang, Y; Desikan, RS; Gibbs, JR; Blauwendraat, C; Thompson, WK; ... International Parkinson’s Disease Genomics Consortium (IPDGC), N, .; + view all (2017) Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurology , 74 (7) pp. 780-792. 10.1001/jamaneurol.2017.0469. Green open access
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Yokoyama, JS; Karch, CM; Fan, CC; Bonham, LW; Kouri, N; Ross, OA; Rademakers, R; ... Desikan, RS; + view all (2017) Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathologica , 133 (5) pp. 825-837. 10.1007/s00401-017-1693-y. Green open access
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2016

Adams, HHH; Hibar, DP; Chouraki, V; Stein, JL; Nyquist, PA; Renteria, ME; Trompet, S; ... Thompson, PM; + view all (2016) Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience , 19 (12) pp. 1569-1582. 10.1038/nn.4398. Green open access
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Bettencourt, C; Forabosco, P; Wiethoff, S; Heidari, M; Johnstone, DM; Botía, JA; Collingwood, JF; ... Houlden, H; + view all (2016) Gene co-expression networks shed light into diseases of brain iron accumulation. Neurobiology of Disease , 87 pp. 59-68. 10.1016/j.nbd.2015.12.004. Green open access
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Bras, J; Djaldetti, R; Alves, AM; Mead, S; Darwent, L; Lleo, A; Luis Molinuevo, J; ... Guerreiro, R; + view all (2016) Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiology of Aging , 46 236.e1-236.e6. 10.1016/j.neurobiolaging.2016.06.018. Green open access
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Buss, L; Fisher, E; Hardy, J; Nizetic, D; Groet, J; Pulford, L; Strydom, A; (2016) Intracerebral haemorrhage in Down syndrome: protected or predisposed? F1000Research , 5 , Article 876. 10.12688/f1000research.7819.1. Green open access
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Castillo-Quan, JI; Li, L; Kinghorn, KJ; Ivanov, DK; Tain, LS; Slack, C; Kerr, F; ... Partridge, L; + view all (2016) Lithium Promotes Longevity through GSK3/NRF2-Dependent Hormesis. Cell Reports , 15 (3) pp. 638-650. 10.1016/j.celrep.2016.03.041. Green open access
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Ferrari, R; Forabosco, P; Vandrovcova, J; Botía, JA; Guelfi, S; Warren, JD; UK Brain Expression Consortium (UKBEC); ... Hardy, J; + view all (2016) Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis. Molecular Neurodegeneration , 11 , Article 21. 10.1186/s13024-016-0085-4. Green open access
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Foulger, RE; Denny, P; Hardy, J; Martin, MJ; Sawford, T; Lovering, RC; (2016) Using the Gene Ontology to Annotate Key Players in Parkinson's Disease. Neuroinformatics , 14 (3) pp. 297-304. 10.1007/s12021-015-9293-2. Green open access
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Franke, B; Stein, JL; Ripke, S; Anttila, V; Hibar, DP; van Hulzen, KJ; Arias-Vasquez, A; ... Sullivan, PF; + view all (2016) Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nature Neuroscience , 19 (3) pp. 420-431. 10.1038/nn.4228. Green open access
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Gagliano, SA; Pouget, JG; Hardy, J; Knight, J; Barnes, MR; Ryten, M; Weale, ME; (2016) Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases. Annals of Clinical and Translational Neurology , 3 (12) pp. 924-933. 10.1002/acn3.369. Green open access
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Geiger, JT; Ding, J; Crain, B; Pletnikova, O; Letson, C; Dawson, TM; Rosenthal, LS; ... Scholz, SW; + view all (2016) Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiology of Disease , 94 pp. 55-62. 10.1016/j.nbd.2016.06.004. Green open access
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Guerreiro, R; Brás, J; Batista, S; Pires, P; Ribeiro, MH; Almeida, MR; Oliveira, C; ... Santana, I; + view all (2016) Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation. Genes, Brain and Behaviour , 15 (7) pp. 669-677. 10.1111/gbb.12308. Green open access
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Guerreiro, R; Escott-Price, V; Darwent, L; Parkkinen, L; Ansorge, O; Hernandez, DG; Nalls, MA; ... Bras, J; + view all (2016) Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiology of Aging , 38 214.e7-214.e10. 10.1016/j.neurobiolaging.2015.10.028. Green open access
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Guven, G; Lohmann, E; Bras, J; Gibbs, JR; Gurvit, H; Bilgic, B; Hanagasi, H; ... Guerreiro, R; + view all (2016) Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PLoS ONE , 11 (9) , Article e0162592. 10.1371/journal.pone.0162592. Green open access
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Hernandez, DMG; (2016) Genetic variation and DNA methylation in the context of neurological disease. Doctoral thesis , UCL (University College London). Green open access
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Heslegrave, A; Heywood, W; Paterson, R; Magdalinou, N; Svensson, J; Johansson, P; Ohrfelt, A; ... Zetterberg, H; + view all (2016) Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease. Molecular Neurodegeneration , 11 , Article 3. 10.1186/s13024-016-0071-x. Green open access
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Heywood, WE; Galimberti, D; Bliss, E; Sirka, E; Paterson, RW; Magdalinou, NK; Carecchio, M; ... Mills, K; + view all (2016) Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay (vol 10, 64, 2015). [Corrigendum]. Molecular Neurodegeneration , 11 , Article 20. 10.1186/s13024-016-0086-3. Green open access
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Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; ... Houlden, H; + view all (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain , 139 (7) pp. 1904-1918. 10.1093/brain/aww111. Green open access
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Karmiloff-Smith, A; Al-Janabi, T; D'Souza, H; Groet, J; Massand, E; Mok, K; Startin, C; ... Strydom, A; + view all (2016) The importance of understanding individual differences in Down syndrome. F1000Research , 5 , Article 389. 10.12688/f1000research.7506.1. Green open access
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Kinghorn, KJ; Castillo-Quan, JI; Li, L; Bhatia, KP; Abramov, AY; Hardy, J; Partridge, L; (2016) Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. Brain , 139 (12) , Article e68. 10.1093/brain/aww185. Green open access
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Kinghorn, KJ; Groenke, S; Castillo-Quan, JI; Woodling, NS; Li, L; Sirka, E; Gegg, M; ... Partridge, L; + view all (2016) A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin. JOURNAL OF NEUROSCIENCE , 36 (46) pp. 11654-11670. 10.1523/JNEUROSCI.4527-15.2016. Green open access
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Klein, AD; Ferreira, N-S; Ben-Dor, S; Duan, J; Hardy, J; Cox, TM; Merrill, AH; (2016) Identification of Modifier Genes in a Mouse Model of Gaucher Disease. Cell Reports , 16 (10) pp. 2546-2553. 10.1016/j.celrep.2016.07.085. Green open access
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Ling, H; Kovacs, GG; Vonsattel, JP; Davey, K; Mok, KY; Hardy, J; Morris, HR; ... Revesz, T; + view all (2016) Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology. Brain , 139 (12) pp. 3237-3252. 10.1093/brain/aww256. Green open access
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Lubbe, SJ; Escott-Price, V; Brice, A; Gasser, T; Pittman, AM; Bras, J; Hardy, J; ... International Parkinson's Disease Genomics Consortium, .; + view all (2016) Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiology of Aging , 48 222.e1-222.e7. 10.1016/j.neurobiolaging.2016.07.013. Green open access
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Lubbe, SJ; Escott-Price, V; Gibbs, JR; Nalls, MA; Bras, J; Price, TR; Nicolas, A; ... for International Parkinson’s Disease Genomics Consortium, .; + view all (2016) Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Human Molecular Genetics , 25 (24) pp. 5483-5489. 10.1093/hmg/ddw348. Green open access
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Malek, N; Lawton, MA; Swallow, DMA; Grosset, KA; Marrinan, SL; Bajaj, N; Barker, RA; ... Grosset, DG; + view all (2016) Vascular disease and vascular risk factors in relation to motor features and cognition in early Parkinson's disease. Movement Disorders , 31 (10) pp. 1518-1526. 10.1002/mds.26698. Green open access
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Manzoni, C; Mamais, A; Roosen, DA; Dihanich, S; Soutar, MPM; Plun-Favreau, H; Bandopadhyay, R; ... Lewis, PA; + view all (2016) mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1. Scientific Reports , 6 , Article 35106. 10.1038/srep35106. Green open access
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Mattsson, N; Schott, JM; Hardy, J; Turner, MR; Zetterberg, H; (2016) Selective vulnerability in neurodegeneration: insights from clinical variants of Alzheimer's disease. Journal of Neurology, Neurosurgery and Psychiatry , 87 (9) pp. 1000-1004. 10.1136/jnnp-2015-311321. Green open access
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Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; ... Bhatia, KP; + view all (2016) De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. The American Journal of Human Genetics , 98 (4) pp. 763-771. 10.1016/j.ajhg.2016.02.015. Green open access
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Mok, KY; Sheerin, U; Simón-Sánchez, J; Salaka, A; Chester, L; Escott-Price, V; Mantripragada, K; ... Wood, NW; + view all (2016) Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurology , 15 (6) pp. 585-596. 10.1016/S1474-4422(16)00071-5. Green open access
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Paudel, R; Li, A; Hardy, J; Bhatia, KP; Houlden, H; Holton, J; (2016) DYT6 Dystonia: A Neuropathological Study. Neurodegenerative Diseases , 16 (3-4) pp. 273-278. 10.1159/000440863. Green open access
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Ponnampalam, SN; (2016) A blood-based gene expression and signalling pathway analysis to differentiate between high and low grade gliomas. Doctoral thesis , UCL (University College London). Green open access
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Preza, E; Hardy, J; Warner, T; Wray, S; (2016) Induced pluripotent stem cell models of frontotemporal dementia. Neuropathology and Applied Neurobiology , 42 (6) pp. 497-520. 10.1111/nan.12334. Green open access
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Sailer, A; Scholz, SW; Nalls, MA; Schulte, C; Federoff, M; Price, TR; Lees, A; ... European Multiple System Atrophy Study Group and the UK Multiple; + view all (2016) A genome-wide association study in multiple system atrophy. Neurology , 87 (15) pp. 1591-1598. 10.1212/WNL.0000000000003221. Green open access
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Sassi, C; Nalls, MA; Ridge, PG; Gibbs, JR; Ding, J; Lupton, MK; Troakes, C; ... Hardy, J; + view all (2016) ABCA7 p.G215S as potential protective factor for Alzheimer's disease. Neurobiology of Aging 10.1016/j.neurobiolaging.2016.04.004. Green open access
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Sassi, C; Ridge, PG; Nalls, MA; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; ... Hardy, J; + view all (2016) Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. PLoS One , 11 (6) , Article e0150079. 10.1371/journal.pone.0150079. Green open access
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Schott, JM; Crutch, SJ; Carrasquillo, MM; Uphill, J; Shakespeare, TJ; Ryan, NS; Yong, KX; ... Mead, S; + view all (2016) Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 10.1016/j.jalz.2016.01.010. Green open access
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Singleton, A; Hardy, J; (2016) The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. [Review]. Neuron , 90 (6) pp. 1154-1163. 10.1016/j.neuron.2016.05.040. Green open access
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van Rheenen, W; Shatunov, A; Dekker, AM; McLaughlin, RL; Diekstra, FP; Pulit, SL; van der Spek, RAA; ... Veldink, JH; + view all (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics , 48 (9) pp. 1043-1048. 10.1038/ng.3622. Green open access
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Wiethoff, S; (2016) Clinicogenetic and functional studies in rare hereditary neurodegenerative movement disorders. Doctoral thesis , UCL (University College London). Green open access
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Yaldizli, Ö; Sethi, V; Pardini, M; Tur, C; Mok, KY; Muhlert, N; Liu, Z; ... Chard, DT; + view all (2016) HLA-DRB∗1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. Multiple Sclerosis and Related Disorders , 7 pp. 47-52. 10.1016/j.msard.2016.03.003. Green open access
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Zetterberg, H; Morris, HR; Hardy, J; Blennow, K; (2016) Update on fluid biomarkers for concussion. Concussion , 1 (3) , Article CNC12. 10.2217/cnc-2015-0002. Green open access
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2015

Beavan, MS; (2015) Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Doctoral thesis , UCL (University College London). Green open access
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Boutoleau-Bretonnière, C; Camuzat, A; Le Ber, I; Bouya-Ahmed, K; Guerreiro, R; Deruet, AL; Evrard, C; ... Vercelletto, M; + view all (2015) A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. J Alzheimers Dis , 43 (2) 625 - 630. 10.3233/JAD-141512. Green open access
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Bras, J; Darwent, L; Orme, T; Hardy, J; Guerreiro, R; Alonso, I; Barbot, C; ... Costa, MM; + view all (2015) Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics , 96 (3) 474 - 479. 10.1016/j.ajhg.2015.01.005. Green open access
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Cummings, DM; Liu, W; Portelius, E; Bayram, S; Yasvoina, M; Ho, SH; Smits, H; ... Edwards, FA; + view all (2015) First effects of rising amyloid-β in transgenic mouse brain: synaptic transmission and gene expression. Brain , 138 (7) 1992 - 2004. 10.1093/brain/awv127. Green open access
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Escott-Price, V; International, Parkinson's Disease Genomics Consortium; Nalls, MA; Morris, HR; Lubbe, S; Brice, A; Gasser, T; ... IPDGC, consortium members; + view all (2015) Polygenic risk of Parkinson disease is correlated with disease age at onset. Annals of Neurology , 77 (4) pp. 582-591. 10.1002/ana.24335. Green open access
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Ferrari, R; Grassi, M; Salvi, E; Borroni, B; Palluzzi, F; Pepe, D; D’Avila, F; ... Momeni, P; + view all (2015) A Genome-Wide Screening and SNPs-to-Genes Approach to Identify Novel Genetic Risk Factors Associated with Frontotemporal Dementia. Neurobiology of Aging , 36 (10) 2904 e.13-2904 e.26. 10.1016/j.neurobiolaging.2015.06.005. Green open access
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Guerreiro, R; Bras, J; Toombs, J; Heslegrave, A; Hardy, J; Zetterberg, H; (2015) Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease. Curr Genet Med Rep , 3 19 - 25. 10.1007/s40142-014-0062-6. Green open access
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Heywood, WE; Galimberti, D; Bliss, E; Sirka, E; Paterson, RW; Magdalinou, NK; Carecchio, M; ... Mills, K; + view all (2015) Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay. Molecular Neurodegeneration , 10 , Article 64. 10.1186/s13024-015-0059-y. Green open access
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Kiely, AP; Ling, H; Asi, YT; Kara, E; Proukakis, C; Schapira, AH; Morris, HR; ... Holton, JL; + view all (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration , 10 , Article 41. 10.1186/s13024-015-0038-3. Green open access
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Ling, H; Hardy, J; Zetterberg, H; (2015) Neurological consequences of traumatic brain injuries in sports. Molecular and Cellular Neuroscience , 66 (B) pp. 114-122. 10.1016/j.mcn.2015.03.012. Green open access
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Matarin, M; Perona, M; Salih, DA; Yasvoina, M; Cummings, DM; Liu, W; NahabooSolim, MA; ... Smith, KJ; + view all (2015) A Genome-wide gene-expression analysis and database in transgenic mice during development of amyloid or tau pathology. Cell Reports , 10 (4) 633 - 645. 10.1016/j.celrep.2014.12.041. Green open access
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Mencacci, NE; Pittman, AM; Isaias, IU; Hardy, J; Klebe, S; Bhatia, KP; Wood, NW; (2015) Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. [Review]. Brain , 138 (5) e352-e352. 10.1093/brain/awu309. Green open access
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Mencacci, NE; R'bibo, L; Bandres-Ciga, S; Carecchio, M; Zorzi, G; Nardocci, N; Garavaglia, B; ... Wood, NW; + view all (2015) The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Human Molecular Genetics , 24 (18) pp. 5326-5329. 10.1093/hmg/ddv255. Green open access
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Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; ... Wood, NW; + view all (2015) A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet , 96 (6) pp. 938-947. 10.1016/j.ajhg.2015.04.008. Green open access
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Noyce, AJ; Mencacci, NE; Schrag, A; Bestwick, JP; Giovannoni, G; Lees, AJ; Hardy, J; (2015) Web-based assessment of Parkinson's prodromal markers identifies GBA variants. Mov Disord , 30 (7) pp. 1002-1003. 10.1002/mds.26249. Green open access
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Partridge, L; Kinghorn, K; Castillo, K; Li, L; Bartolome, F; Angelova, P; Pope, S; ... Abramov, A; + view all (2015) Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction. Brain , 138 (7) pp. 1801-1816. 10.1093/brain/awv132. Green open access
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Sposito, T; Preza, E; Mahoney, CJ; Setó-Salvia, N; Ryan, NS; Morris, HR; Arber, C; ... Wray, S; + view all (2015) Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT. Human Molecular Genetics , 24 (18) pp. 5260-5269. 10.1093/hmg/ddv246. Green open access
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Wiseman, FK; Al-Janabi, T; Hardy, J; Karmiloff-Smith, A; Nizetic, D; Tybulewicz, VLJ; Fisher, EMC; (2015) A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nature Reviews Neuroscience , 16 (9) pp. 564-574. 10.1038/nrn3983. Green open access
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2014

Beecham, GW; Hamilton, K; Naj, AC; Martin, ER; Huentelman, M; Myers, AJ; Corneveaux, JJ; ... Montine, TJ; + view all (2014) Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias. PLoS Genetics , 10 (9) , Article e1004606. 10.1371/journal.pgen.1004606. Green open access
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Berg, D; Postuma, RB; Bloem, B; Chan, P; Dubois, B; Gasser, T; Goetz, CG; ... Deuschl, G; + view all (2014) Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Mov Disord , 29 (4) pp. 454-462. 10.1002/mds.25844. Green open access
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Bras, J; Guerreiro, R; Darwent, L; Parkkinen, L; Ansorge, O; Escott-Price, V; Hernandez, DG; ... Hardy, J; + view all (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet , 23 (23) 6139 - 6146. 10.1093/hmg/ddu334. Green open access
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Escott-Price, V; Bellenguez, C; Wang, LS; Choi, SH; Harold, D; Jones, L; Holmans, P; ... Cardiovascular Health Study (CHS); + view all (2014) Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One , 9 (6) , Article e94661. 10.1371/journal.pone.0094661. Green open access
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Guerreiro, R; Brás, J; Hardy, J; Singleton, A; (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet , 23 (R1) R47-R53. 10.1093/hmg/ddu203. Green open access
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Guerreiro, R; Brás, J; Wojtas, A; Rademakers, R; Hardy, J; Graff-Radford, N; (2014) A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging , 35 (11) 2656.e13-2656.e16. 10.1016/j.neurobiolaging.2014.05.013. Green open access
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Guerreiro, R; Hardy, J; (2014) Genetics of Alzheimer's Disease. NEUROTHERAPEUTICS , 11 (4) 732 - 737. 10.1007/s13311-014-0295-9. Green open access
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Guerreiro, R; Hardy, J; (2014) Genetics of Alzheimer's Disease. Neurotherapeutics , 11 (4) pp. 732-737. 10.1007/s13311-014-0295-9. Green open access
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Karran, E; Hardy, J; (2014) A Critique of the Drug Discovery and Phase 3 Clinical Programmes targeting the Amyloid Hypothesis for Alzheimer's disease. Ann Neurol , 76 (2) pp. 185-205. 10.1002/ana.24188. Green open access
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Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; ... Holton, JL; + view all (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun , 2 (1) , Article 24. 10.1186/2051-5960-2-24. Green open access
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Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; ... on behalf of the International Parkinson’s Disease Genomics Cons; + view all (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access
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Mok, KY; Hardy, J; Jones, EL; Ballard, C; Hanney, M; Harold, D; Sims, R; (2014) Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging , 35 (6) 1513.e1-1513.e5. 10.1016/j.neurobiolaging.2013.12.022. Green open access
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Mok, KY; Schneider, SA; Trabzuni, D; Stamelou, M; Edwards, M; Kasperaviciute, D; Pickering-Brown, S; ... Bhatia, KP; + view all (2014) Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Mov Disord , 29 (2) pp. 245-251. 10.1002/mds.25732. Green open access
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Paudel, R; Kiely, A; Li, A; Lashley, T; Bandopadhyay, R; Hardy, J; Jinnah, HA; ... Holton, JL; + view all (2014) Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathol Commun , 2 (1) , Article 159. 10.1186/s40478-014-0159-x. Green open access
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Sassi, C; Guerreiro, R; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; Al-Sarraj, S; ... Hardy, J; + view all (2014) Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of Aging , 35 (12) 2881.e1-2881.e6. 10.1016/j.neurobiolaging.2014.06.002. Green open access
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Sassi, C; Guerreiro, R; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; Lunnon, K; ... Hardy, J; + view all (2014) Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging , 35 (10) 2422.e13-2422.e16. 10.1016/j.neurobiolaging.2014.04.026. Green open access
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Wiethoff, S; Xiromerisiou, G; Bettencourt, C; Kioumi, A; Tsiptsios, I; Tychalas, A; Evaggelia, M; ... Houlden, H; + view all (2014) Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. Journal of the Neurological Sciences , 339 (1-2) pp. 220-222. 10.1016/j.jns.2014.01.034. Green open access
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2013

Ahmed, R; Guerreiro, R; Rohrer, JD; Guven, G; Rossor, MN; Hardy, J; Fox, NC; (2013) A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. Journal of the Neurological Sciences , 332 (1-2) pp. 141-144. 10.1016/j.jns.2013.06.007. Green open access
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Angeli, A; Mencacci, NE; Duran, R; Aviles-Olmos, I; Kefalopoulou, Z; Candelario, J; Rusbridge, S; ... Foltynie, T; + view all (2013) Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation. Movement Disorders , 28 (10) pp. 1370-1375. 10.1002/mds.25535. Green open access
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Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; Fox, NC; ... Plun-Favreau, H; + view all (2013) Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028. Green open access
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Bettencourt, C; Morris, HR; Singleton, AB; Hardy, J; Houlden, H; (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. Journal of Neurology , 260 (9) pp. 2414-2416. 10.1007/s00415-013-7044-6. Green open access
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Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; ... Plun-Favreau, H; + view all (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience , 16 (9) pp. 1257-1265. 10.1038/nn.3489. Green open access
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Doherty, KM; Hardy, J; (2013) Parkin disease and the Lewy body conundrum. Movement Disorders , 28 (6) pp. 702-704. 10.1002/mds.25486. Green open access
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Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; ... Foltynie, T; + view all (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green open access
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Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; Levine, AP; ... Ryten, M; + view all (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging , 34 (12) pp. 2699-2714. 10.1016/j.neurobiolaging.2013.05.001. Green open access
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Fratta, P; Charnock, J; Collins, T; Devoy, A; Howard, R; Malaspina, A; Orrell, R; ... Fisher, EM; + view all (2013) Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry , 85 pp. 506-508. 10.1136/jnnp-2013-306761. Green open access
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Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis. Current Opinion in Neurology , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83. Green open access
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Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058. Green open access
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Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; ... Holton, JL; + view all (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access
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Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; Hardy, J; ... Wood, NW; + view all (2013) The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery and Psychiatry , 84 (6) 666 - 673. 10.1136/jnnp-2012-304475. Green open access
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Lashley, T; Hardy, J; Isaacs, AM; (2013) RANTing about C9orf72. Neuron , 77 (4) 597 - 598. 10.1016/j.neuron.2013.02.009. Green open access
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Li, A; Paudel, R; Johnson, R; Courtney, R; Lees, AJ; Holton, JL; Hardy, J; ... Houlden, H; + view all (2013) Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathology and Applied Neurobiology , 39 (2) pp. 121-131. 10.1111/j.1365-2990.2012.01269.x. Green open access
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Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; Lees, A; ... Revesz, T; + view all (2013) TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging , 34 (12) 2889.e5 - 2889.e9. 10.1016/j.neurobiolaging.2013.04.011. Green open access
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Manzoni, C; Mamais, A; Dihanich, S; McGoldrick, P; Devine, MJ; Zerle, J; Kara, E; ... Lewis, PA; + view all (2013) Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochemical and Biophysical Research Communications , 441 (4) pp. 862-866. 10.1016/j.bbrc.2013.10.159. Green open access
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Noyce, AJ; Bestwick, JP; Silveira-Moriyama, L; Hawkes, CH; Knowles, CH; Hardy, J; Giovannoni, G; ... Schrag, A; + view all (2013) PREDICT-PD: Identifying risk of Parkinson's disease in the community: methods and baseline results. Journal of Neurology, Neurosurgery and Psychiatry , 85 (1) pp. 31-37. 10.1136/jnnp-2013-305420. Green open access
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Ramasamy, A; Trabzuni, D; Gibbs, JR; Dillman, A; Hernandez, DG; Arepalli, S; Walker, R; ... Weale, ME; + view all (2013) Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research , 41 (7) , Article e88. 10.1093/nar/gkt069. Green open access
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Trabzuni, D; Ramasamy, A; Imran, S; Walker, R; Smith, C; Weale, ME; Hardy, J; ... North American Brain Expression Consortium; + view all (2013) Widespread sex differences in gene expression and splicing in the adult human brain. Nat Commun , 4 , Article 2771. 10.1038/ncomms3771. Green open access
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Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; ... Plagnol, V; + view all (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green open access
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Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; ... Houlden, H; + view all (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green open access
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Warren, JD; Rohrer, JD; Schott, JM; Fox, NC; Hardy, J; Rossor, MN; (2013) Molecular nexopathies: a new paradigm of neurodegenerative disease. Trends Neurosci , 36 (10) pp. 561-569. 10.1016/j.tins.2013.06.007. Green open access
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Xiromerisiou, G; Dardiotis, E; Tsironi, EE; Hadjigeorgiou, G; Ralli, S; Kara, E; Petalas, A; ... Houlden, H; + view all (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism & Related Disorders , 19 (3) 404 - 405. 10.1016/j.parkreldis.2012.08.015. Green open access
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2012

Casas, JP; Hingorani, AD; (2012) The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet , 379 (9822) 1214 - 1224. 10.1016/S0140-6736(12)60110-X. Green open access
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Cooper-Knock, J; Hewitt, C; Highley, JR; Brockington, A; Milano, A; Man, S; Martindale, J; ... Shaw, PJ; + view all (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain , 135 (3) 751 - 764. 10.1093/brain/awr365. Green open access
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Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; ... Lewis, PA; + view all (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 7 (1) , Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5. Green open access
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Guerreiro, RJ; Gustafson, DR; Hardy, J; (2012) The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiology of Disease , 33 (3) 437 - 456. 10.1016/j.neurobiolaging.2010.03.025. Green open access
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Hernandez, DG; Nalls, MA; Moore, M; Chong, S; Dillman, A; Trabzuni, D; Gibbs, JR; ... Cookson, MR; + view all (2012) Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of Disease , 47 (1) 20 - 28. 10.1016/j.nbd.2012.03.020. Green open access
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Hernandez, DG; Nalls, MA; Ylikotila, P; Keller, M; Hardy, JA; Majamaa, K; Singleton, AB; (2012) Genome Wide Assessment of Young Onset Parkinson's Disease from Finland. PLOS ONE , 7 (7) , Article e41859. 10.1371/journal.pone.0041859. Green open access
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Kara, E; Ling, H; Pittman, AM; Shaw, K; de Silva, R; Simone, R; Holton, JL; ... Revesz, T; + view all (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobioly of Aging , 33 (9) 2231.e7 - 2231.e14. 10.1016/j.neurobiolaging.2012.04.006. Green open access
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Kojovic, M; Sheerin, UM; Rubio-Agusti, I; Saha, A; Bras, J; Gibbons, V; Palmer, R; ... Bhatia, KP; + view all (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord , 27 (14) pp. 1829-1830. 10.1002/mds.25199. Green open access
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Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; Kasperavičiūtė, D; ... Stupka, E; + view all (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292. 10.1371/journal.pone.0051292. Green open access
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Lill, CM; Roehr, JT; McQueen, MB; Kavvoura, FK; Bagade, S; Schjeide, B-MM; Schjeide, LM; ... WTCCC2; + view all (2012) Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database. PLOS GENETICS , 8 (3) , Article e1002548. 10.1371/journal.pgen.1002548. Green open access
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Mahoney, CJ; Beck, J; Rohrer, JD; Lashley, T; Mok, K; Shakespeare, T; Yeatman, T; ... Warren, JD; + view all (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain , 135 (3) 736 - 750. 10.1093/brain/awr361. Green open access
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Majounie, E; Renton, AE; Mok, K; Dopper, EG; Waite, A; Rollinson, S; Chiò, A; ... Traynor, BJ; + view all (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology , 11 (4) 323 - 330. 10.1016/S1474-4422(12)70043-1. Green open access
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Matsuki, T; Zaka, M; Guerreiro, R; van der Brug, MP; Cooper, JA; Cookson, MR; Hardy, JA; (2012) Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. PLoS One , 7 (2) , Article e31152. 10.1371/journal.pone.0031152. Green open access
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McNaughton, D; Knight, W; Guerreiro, R; Ryan, N; Lowe, J; Poulter, M; Nicholl, DJ; ... Mead, S; + view all (2012) Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobioly of Aging , 33 (2) 426.e13 - 426.e21. 10.1016/j.neurobiolaging.2010.10.010. Green open access
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Mok, K; Traynor, BJ; Schymick, J; Tienari, PJ; Laaksovirta, H; Peuralinna, T; Myllykangas, L; ... Hardy, J; + view all (2012) Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Disease , 33 (1) 209.e3 - 209.e8. 10.1016/j.neurobiolaging.2011.08.005. Green open access
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Rogers, I; Kerr, F; Martinez, P; Hardy, J; Lovestone, S; Partridge, L; (2012) Ageing increases vulnerability to aβ42 toxicity in Drosophila. PLOS One , 7 (7) , Article e40569. 10.1371/journal.pone.0040569. Green open access
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Simon-Sanchez, J; Kilarski, LL; Nalls, MA; Martinez, M; Schulte, C; Holmans, P; Gasser, T; ... Consor, WTCC; + view all (2012) Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease. PLOS ONE , 7 (3) , Article e28787. 10.1371/journal.pone.0028787. Green open access
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Swaminathan, S; Huentelman, MJ; Corneveaux, JJ; Myers, AJ; Faber, KM; Foroud, T; Mayeux, R; ... Grp, NIA-LOADNCRADFS; + view all (2012) Analysis of Copy Number Variation in Alzheimer's Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals. PLOS ONE , 7 (12) , Article e50640. 10.1371/journal.pone.0050640. Green open access
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Trabzuni, D; Wray, S; Vandrovcova, J; Ramasamy, A; Walker, R; Smith, C; Luk, C; ... Ryten, M; + view all (2012) MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics , 21 (18) 4094 -4103. 10.1093/hmg/dds238. Green open access
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Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; Hardy, J; (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033. Green open access
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Wray, S; Self, M; NINDS Parkinson's Disease iPSC Consortium; NINDS Huntington's Disease iPSC Consortium; NINDS ALS iPSC Consortium; Lewis, PA; Taanman, JW; ... Hardy, J; + view all (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. Green open access
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2011

Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; ... Lewis, PA; + view all (2011) Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 6 (7) , Article e22489. 10.1371/journal.pone.0022489. Green open access
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Jones, L; Holmans, PA; Hamshere, ML; Harold, D; Moskvina, V; Ivanov, D; Pocklington, A; ... Williams, J; + view all (2011) Correction: genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One , 6 (2) , Article e13950. 10.1371/journal.pone.0013950. Green open access
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Meschia, JF; Singleton, A; Nalls, MA; Rich, SS; Sharma, P; Ferrucci, L; Matarin, M; ... Worrall, BB; + view all (2011) Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis. PLOS ONE , 6 (9) , Article e23161. 10.1371/journal.pone.0023161. Green open access
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Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; ... WTCCC2; + view all (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access
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2010

Guerreiro, RJ; Beck, J; Gibbs, JR; Santana, I; Rossor, MN; Schott, JM; Nalls, MA; ... Hardy, J; + view all (2010) Genetic Variability in CLU and Its Association with Alzheimer's Disease. PLOS ONE , 5 (3) , Article e9510. 10.1371/journal.pone.0009510. Green open access
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Jones, L; Holmans, PA; Hamshere, ML; Harold, D; Moskvina, V; Ivanov, D; Pocklington, A; ... Williams, J; + view all (2010) Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease. PLOS ONE , 5 (11) , Article e13950. 10.1371/journal.pone.0013950. Green open access
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Plun-Favreau, H; Lewis, PA; Hardy, J; Martins, LM; Wood, NW; (2010) Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genetics , 6 (12) , Article e1001257. 10.1371/journal.pgen.1001257. Green open access
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Sofola, O; Kerr, F; Rogers, I; Killick, R; Augustin, H; Gandy, C; Allen, MJ; ... Partridge, L; + view all (2010) Inhibition of GSK-3 ameliorates Aβ pathology in an adult-onset drosophila model of Alzheimer's Disease. PLoS Genetics , 6 (9) , Article e1001087. 10.1371/journal.pgen.1001087. Green open access
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2009

Nalls, MA; Simon-Sanchez, J; Gibbs, JR; Paisan-Ruiz, C; Bras, JT; Tanaka, T; Matarin, M; ... Singleton, AB; + view all (2009) Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics. PLoS Genetics , 5 (3) , Article e1000415. 10.1371/journal.pgen.1000415. Green open access
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2008

Bras, J; Guerreiro, R; Ribeiro, M; Morgadinho, A; Januario, C; Dias, M; Calado, A; ... Singleton, A; + view all (2008) Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurology , 8 , Article 1. 10.1186/1471-2377-8-1. Green open access
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Guerreiro, RJ; Schymick, JC; Crews, C; Singleton, A; Hardy, J; Traynor, BJ; (2008) TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis. PLOS ONE , 3 (6) , Article e2450. 10.1371/journal.pone.0002450. Green open access
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Okubadejo, N; Britton, A; Crews, C; Akinyemi, R; Hardy, J; Singleton, A; Bras, J; (2008) Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLOS ONE , 3 (10) , Article e3421. 10.1371/journal.pone.0003421. Green open access
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2007

Gwinn, K; Corriveau, RA; Mitsumoto, H; Bednarz, K; Jr, BRH; Cudkowicz, M; Gordon, PH; ... Grp, ALSR; + view all (2007) Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery. PLOS ONE , 2 (12) , Article e1254. 10.1371/journal.pone.0001254. Green open access
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Low, NCP; Hardy, J; (2007) Psychiatric disorder criteria and their application to research in different racial groups. BMC Psychiatry , 7 , Article 1. 10.1186/1471-244X-7-1. Green open access
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van de Leemput, J; Chandran, J; Knight, MA; Holtzclaw, LA; Scholz, S; Cookson, MR; Houlden, H; ... Singleton, AB; + view all (2007) Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genetics , 3 (6) , Article e108. 10.1371/journal.pgen.0030108. Green open access
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2006

Fung, HC; Chen, CM; Hardy, J; Singleton, AB; Wu, YR; (2006) A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurology , 6 , Article 47. 10.1186/1471-2377-6-47. Green open access
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Guerreiro, RJ; Bras, JM; Santana, I; Januario, C; Santiago, B; Morgadinho, AS; Ribeiro, MH; ... Oliveira, C; + view all (2006) Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurology , 6 , Article 24. 10.1186/1471-2377-6-24. Green open access
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2005

Rezai-Zadeh, K; Shytle, D; Sun, N; Mori, T; Hou, HY; Jeanniton, D; Ehrhart, J; ... Tan, J; + view all (2005) Green tea epigallocatechin-3-gallate (EGCG) modulates amyloid precursor protein cleavage and reduces cerebral amyloidosis in Alzheimer transgenic mice. JOURNAL OF NEUROSCIENCE , 25 (38) 8807 - 8814. 10.1523/JNEUROSCI.1521-05.2005. Green open access
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2000

Ostrerova-Golts, N; Petrucelli, L; Hardy, J; Lee, JM; Farer, M; Wolozin, B; (2000) The A53T alpha-synuclein mutation increases iron-dependent aggregation and toxicity. JOURNAL OF NEUROSCIENCE , 20 (16) 6048 - 6054. Green open access
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1999

Ostrerova, N; Petrucelli, L; Farrer, M; Mehta, N; Choi, P; Hardy, J; Wolozin, B; (1999) alpha-Synuclein shares physical and functional homology with 14-3-3 proteins. JOURNAL OF NEUROSCIENCE , 19 (14) 5782 - 5791. Green open access
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This list was generated on Sun Apr 14 00:53:28 2024 BST.