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Number of items: 329.

A

Abdalla, G; Dixon, L; Sanverdi, E; Machado, PM; Kwong, JSW; Panovska-Griffiths, J; Rojas-Garcia, A; ... Bisdas, S; + view all (2020) The diagnostic role of diffusional kurtosis imaging in glioma grading and differentiation of gliomas from other intra-axial brain tumours: a systematic review with critical appraisal and meta-analysis. Neuroradiology 10.1007/s00234-020-02425-9. (In press). Green open access
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Abouward, R; Schiavo, G; (2020) Walking the line: mechanisms underlying directional mRNA transport and localisation in neurons and beyond. Cellular and Molecular Life Sciences 10.1007/s00018-020-03724-3. (In press). Green open access
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Abramzon, YA; Fratta, P; Traynor, BJ; Chia, R; (2020) The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Frontiers In Neuroscience , 14 , Article 42. 10.3389/fnins.2020.00042. Green open access
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Aghaizu, ND; Jin, H; Whiting, PJ; (2020) Dysregulated Wnt Signalling in the Alzheimer's Brain. Brain Sciences , 10 (12) p. 902. 10.3390/brainsci10120902. Green open access
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Agrawal, P; Machado, PM; (2020) Recent advances in managing axial spondyloarthritis. F1000Research , 9 , Article 697. 10.12688/f1000research.22577.1. Green open access
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Aitken, J; Ambrose, K; Barrell, S; Beale, R; Bineva-Todd, G; Biswas, D; Byrne, R; ... Wu, M; + view all (2020) Scalable and robust SARS-CoV-2 testing in an academic center. Nature Biotechnology , 38 (8) pp. 927-931. 10.1038/s41587-020-0588-y. Green open access
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Alam, A; Thelin, EP; Tajsic, T; Khan, DZ; Khellaf, A; Patani, R; Helmy, A; (2020) Cellular infiltration in traumatic brain injury. Journal of Neuroinflammation , 17 (1) , Article 328. 10.1186/s12974-020-02005-x. Green open access
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Alghamdi, AH; Munday, JC; Campagnaro, GD; Gurvic, D; Svensson, F; Okpara, CE; Kumar, A; ... De Koning, HP; + view all (2020) Positively selected modifications in the pore of TbAQP2 allow pentamidine to enter Trypanosoma brucei. Elife , 9 , Article e56416. 10.7554/eLife.56416. Green open access
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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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Alles, SRA; Nascimento, F; Luján, R; Luiz, AP; Millet, Q; Bangash, MA; Santana-Varela, S; ... Wood, JN; + view all (2020) Sensory neuron–derived NaV1.7 contributes to dorsal horn neuron excitability. Science Advances , 6 (8) , Article eaax4568. 10.1126/sciadv.aax4568. Green open access
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Almarzouki, A; Wilson, D; Ambler, G; Shakeshaft, C; Cohen, H; Yousry, T; Salman, RA-S; ... Werring, DJ; + view all (2020) Sensitivity and specifcity of blood‑fuid levels for oral anticoagulant‑associated intracerebral haemorrhage. Scientific Reports , 10 (1) , Article 15529. 10.1038/s41598-020-72504-7. Green open access
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Aranda-Valera, IC; Cuesta-Vargas, A; Garrido-Castro, JL; Gardiner, PV; López-Medina, C; Machado, PM; Condell, J; ... On Behalf Of iMaxSpA Study Group; + view all (2020) Measuring Spinal Mobility Using an Inertial Measurement Unit System: A Validation Study in Axial Spondyloarthritis. Diagnostics , 10 (6) , Article 426. 10.3390/diagnostics10060426. Green open access
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Atkinson, BN; Chudasama, V; Browne, LE; (2020) Controlling Engineered P2X Receptors with Light. Methods in Molecular Biology , 2041 pp. 301-309. 10.1007/978-1-4939-9717-6_22. Green open access
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Ayele, BA; Rizig, M; Amogne, W; Zenebe, Y; Demissie, H; Gams Massi, D; El-Sadig, S; ... Abd-Allah, F; + view all (2020) COVID-19 and the state of African neurology. European Journal of Neurology , 27 (9) e48-e49. 10.1111/ene.14404. Green open access
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Azad, B; Efthymiou, S; Sultan, T; Scala, M; Alvi, JR; Neuray, C; Dominik, N; ... Houlden, H; + view all (2020) Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. Journal of the Neurological Sciences , 414 , Article 116826. 10.1016/j.jns.2020.116826. Green open access
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Azzarito, M; Kyathanahally, SP; Balbastre, Y; Seif, M; Blaiotta, C; Callaghan, MF; Ashburner, J; (2020) Simultaneous voxel‐wise analysis of brain and spinal cord morphometry and microstructure within the SPM framework. Human Brain Mapping 10.1002/hbm.25218. (In press). Green open access
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Azzarito, M; Seif, M; Kyathanahally, S; Curt, A; Freund, P; (2020) Tracking the neurodegenerative gradient after spinal cord injury. NeuroImage: Clinical , 26 , Article 102221. 10.1016/j.nicl.2020.102221. Green open access
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B

Baheerathan, A; Pitceathly, RDS; Curtis, C; Davies, NWS; (2020) CSF lactate. Practical Neurology 10.1136/practneurol-2019-002191. (In press). Green open access
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Bakker, MK; van der Spek, RAA; van Rheenen, W; Morel, S; Bourcier, R; Hostettler, IC; Alg, VS; ... Ruigrok, YM; + view all (2020) Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. Nature Genetics , 52 (12) pp. 1303-1313. 10.1038/s41588-020-00725-7. Green open access
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Balaratnam, M; Donnelly, A; Padilla, H; Simeoni, S; Bahadur, S; Keenan, L; Lee, H; ... Stevenson, V; + view all (2020) Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines. Neuromodulation , 23 (7) pp. 991-995. 10.1111/ner.13071. Green open access
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Bampton, A; Gittings, LM; Fratta, P; Lashley, T; Gatt, A; (2020) The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis. Acta Neuropathologica 10.1007/s00401-020-02203-0. (In press). Green open access
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Banerjee, G; Ambler, G; Wilson, D; Hostettler, IC; Shakeshaft, C; Lunawat, S; Cohen, H; ... CROMIS-2 collaborators, .; + view all (2020) Baseline factors associated with early and late death in intracerebral haemorrhage survivors. European Journal of Neurology , 27 (7) pp. 1257-1263. 10.1111/ene.14238. Green open access
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Banerjee, G; Chan, E; Ambler, G; Wilson, D; Cipolotti, L; Shakeshaft, C; Cohen, H; ... CROMIS‐2 Collaborators, *; + view all (2020) Cognitive Impairment Before Atrial Fibrillation-Related Ischemic Events: Neuroimaging and Prognostic Associations. Journal of the American Heart Association , 9 (1) , Article e014537. 10.1161/JAHA.119.014537. Green open access
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Banerjee, G; Wilson, D; Ambler, G; Hostettler, IC; Shakeshaft, C; Cohen, H; Yousry, T; ... CROMIS-2 collaborators; + view all (2020) Longer term stroke risk in intracerebral haemorrhage survivors. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2020-323079. (In press). Green open access
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Baraliakos, X; Van den Bosch, F; Machado, PM; Gensler, LS; Marzo-Ortega, H; Sherif, B; Quebe-Fehling, E; ... Deodhar, A; + view all (2020) Achievement of Remission Endpoints with Secukinumab Over 3 Years in Active Ankylosing Spondylitis: Pooled Analysis of Two Phase 3 Studies. Rheumatology and Therapy 10.1007/s40744-020-00269-6. (In press). Green open access
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Beecroft, SJ; Cortese, A; Sullivan, R; Yau, WY; Dyer, Z; Wu, TY; Mulroy, E; ... Roxburgh, RH; + view all (2020) A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain , 143 (9) pp. 2673-2680. 10.1093/brain/awaa203. Green open access
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Bellenie, BR; Cheung, K-MJ; Varela, A; Pierrat, OA; Collie, GW; Box, GM; Bright, MD; ... Hoelder, S; + view all (2020) Achieving In Vivo Target Depletion through the Discovery and Optimization of Benzimidazolone BCL6 Degraders. Journal of Medicinal Chemistry , 63 (8) pp. 4047-4068. 10.1021/acs.jmedchem.9b02076. Green open access
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Bendotti, C; Bonetto, V; Pupillo, E; Logroscino, G; Al-Chalabi, A; Lunetta, C; Riva, N; ... Beghi, E; + view all (2020) Focus on the heterogeneity of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 21 (7-8) pp. 485-495. 10.1080/21678421.2020.1779298. Green open access
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Benilova, I; Reilly, M; Terry, C; Wenborn, A; Schmidt, C; Marinho, AT; Risse, E; ... Collinge, J; + view all (2020) Highly infectious prions are not directly neurotoxic. Proceeding of the National Academy of Sciences of the United States of America 10.1073/pnas.2007406117. (In press). Green open access
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Berke Göztepe, M; Görkem Özyurt, M; Sitki Türker, K; Uysal, H; (2020) Comparison of the temporal properties of medium latency responses induced by cortical and peripheral stimulation. Journal of Electromyography and Kinesiology , 55 , Article 102477. 10.1016/j.jelekin.2020.102477. Green open access
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Best, JG; Barbato, C; Ambler, G; Du, H; Banerjee, G; Wilson, D; Shakeshaft, C; ... Clinical Relevance of Microbleeds in Stroke (CROMIS-2) collabora; + view all (2020) Association of enlarged perivascular spaces and anticoagulant-related intracranial hemorrhage. Neurology 10.1212/WNL.0000000000010788. (In press). Green open access
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Beyrouti, R; Adams, ME; Benjamin, L; Cohen, H; Farmer, SF; Goh, YY; Humphries, F; ... Werring, DJ; + view all (2020) Characteristics of ischaemic stroke associated with COVID-19. [Letter]. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2020-323586. (In press). Green open access
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Bhagat, J; Wells, MJ; Harris, KD; Carandini, M; Burgess, CP; (2020) Rigbox: An Open-Source Toolbox for Probing Neurons and Behavior. eNeuro 10.1523/ENEURO.0406-19.2020. (In press). Green open access
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Bibi, F; Efthymiou, S; Bourinaris, T; Tariq, A; Zafar, F; Rana, N; Salpietro, V; ... Minhas, NM; + view all (2020) Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia. Journal of the Neurological Sciences , 411 , Article 116669. 10.1016/j.jns.2020.116669. Green open access
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Bibi, F; Haider, N; Din, SU; Shah, M; Krishin, J; Qayyum, N; Raja, GK; ... Ullah, A; + view all (2020) Sequence Variants in Three Genes Underlying Leukodystrophy in Pakistani Families. International Journal of Developmental Neuroscience , 80 (5) pp. 380-388. 10.1002/jdn.10036. Green open access
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Birsa, N; Bentham, MP; Fratta, P; (2020) Cytoplasmic functions of TDP-43 and FUS and their role in ALS. Seminars in Cell & Developmental Biology , 99 pp. 193-201. 10.1016/j.semcdb.2019.05.023. Green open access
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Bis-Brewer, DM; Gan-Or, Z; Sleiman, P; Rodriguez, A; Bacha, A; Kosikowski, A; Wood, B; ... Züchner, S; + view all (2020) Assessing non-Mendelian inheritance in inherited axonopathies. Genetics in Medicine , 22 pp. 2114-2119. 10.1038/s41436-020-0924-0. Green open access
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Bocchetta, M; Iglesias, JE; Chelban, V; Jabbari, E; Lamb, R; Russell, LL; Greaves, CV; ... Rohrer, JD; + view all (2020) Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes. Journal of Movement Disorders , 13 (1) pp. 39-46. 10.14802/jmd.19030. Green open access
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Bourinaris, T; Smedley, D; Cipriani, V; Sheikh, I; Athanasiou-Fragkouli, A; Chinnery, P; Morris, H; ... Tucci, A; + view all (2020) Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. European Journal of Human Genetics , 28 pp. 1763-1768. 10.1038/s41431-020-00720-w. Green open access
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Bray, P; Cornett, KMD; Estilow, T; Pareyson, D; Zuccarino, R; Skorupinska, M; Pipis, M; ... Eichinger, KJ; + view all (2020) Reliability of the Charcot-Marie-Tooth functional outcome measure. Journal of the Peripheral Nervous System , 25 (3) pp. 288-291. 10.1111/jns.12406. 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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Brownstone, RM; (2020) Key steps in the evolution of mammalian movement: A prolegomenal essay. Neuroscience 10.1016/j.neuroscience.2020.05.020. (In press). Green open access
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Brunet, MA; Jacques, J-F; Nassari, S; Tyzack, GE; McGoldrick, P; Zinman, L; Jean, S; ... Roucou, X; + view all (2020) The FUS gene is dual-coding with both proteins contributing to FUS-mediated toxicity. EMBO Reports (2020) , Article e50640. 10.15252/embr.202050640. Green open access
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Budzinska, MI; Villarroel-Campos, D; Golding, M; Weston, A; Collinson, L; Snijders, AP; Schiavo, G; (2020) PTPN23 binds the dynein adaptor BICD1 and is required for endocytic sorting of neurotrophin receptors. Journal of Cell Science , 133 (6) , Article jcs242412. 10.1242/jcs.242412. Green open access
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Bugiardini, E; Bottani, E; Marchet, S; Poole, OV; Beninca, C; Horga, A; Woodward, C; ... Pitceathly, RDS; + view all (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics , 6 (1) , Article e381. 10.1212/nxg.0000000000000381. Green open access
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Bugiardini, Enrico; (2020) Clinical and Genetic Characterization of Inherited Myopathies and Mitochondrial Diseases. Doctoral thesis (Ph.D), UCL (University College London).

C

Cannavo, C; Tosh, J; Fisher, EMC; Wiseman, FK; (2020) Using mouse models to understand Alzheimer's disease mechanisms in the context of trisomy of chromosome 21. In: Dierssen, M, (ed.) Progress in Brain Research. (pp. 181-208). Elsevier: London, UK.

Capitanchik, C; Toolan-Kerr, P; Luscombe, NM; Ule, J; (2020) How Do You Identify m⁶ A Methylation in Transcriptomes at High Resolution? A Comparison of Recent Datasets. Frontiers in Genetics , 11 , Article 398. 10.3389/fgene.2020.00398. Green open access
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Carandini, M; Harris, KD; Rossi, LF; (2020) Spatial connectivity matches direction selectivity in visual cortex. Nature , 588 pp. 648-652. 10.1038/s41586-020-2894-4. Green open access
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Carvalho, PD; Ruyssen-Witrand, A; Fonseca, J; Marreiros, A; Machado, PM; (2020) Determining factors related to impaired spinal and hip mobility in patients with axial spondyloarthritis: longitudinal results from the DESIR cohort. RMD Open , 6 (3) , Article e001356. 10.1136/rmdopen-2020-001356. Green open access
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Cea, G; Andreu, D; Fletcher, E; Ramdas, S; Sud, R; Hanna, MG; Matthews, E; (2020) Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 1; peer review: awaiting peer review]. Wellcome Open Research , 5 p. 57. 10.12688/wellcomeopenres.15798.1. Green open access
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Cea, G; Andreu, D; Fletcher, E; Ramdas, S; Sud, R; Hanna, MG; Matthews, E; (2020) Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]. Wellcome Open Research , 5 , Article 57. 10.12688/wellcomeopenres.15798.2. Green open access
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Chang, P; Bush, D; Schorge, S; Good, M; Canonica, T; Shing, N; Noy, S; ... Fisher, EMC; + view all (2020) Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome. Cell Reports , 30 (4) 1152-1163.e4. 10.1016/j.celrep.2019.12.065. Green open access
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Chaudhry, A; Anthanasiou-Fragkouli, A; Houlden, H; (2020) DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder. Journal of Neurology 10.1007/s00415-020-10218-6. (In press). Green open access
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Chaudhry, A; Houlden, H; Rizig, M; (2020) Novel fluid biomarkers to differentiate frontotemporal dementia and dementia with Lewy bodies from Alzheimer's disease: A systematic review. Journal of the Neurological Sciences , 415 , Article 116886. 10.1016/j.jns.2020.116886. Green open access
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Chelban, Viorica; (2020) Approaches to discovery of disease-genes and biomarkers in rare neurological disorders: from discovery to translation into therapeutic research advances and improved clinical care. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Chelban, V; Carecchio, M; Rea, G; Bowirrat, A; Kirmani, S; Magistrelli, L; Efthymiou, S; ... Houlden, H; + view all (2020) MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism. Neurology Genetics , 6 (2) , Article e399. 10.1212/NXG.0000000000000399. Green open access
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Chelban, V; Catereniuc, D; Aftene, D; Gasnas, A; Vichayanrat, E; Iodice, V; Groppa, S; (2020) An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention. Journal of Neurology 10.1007/s00415-020-09881-6. (In press). Green open access
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Chen, Z; Ryten, M; Houlden, H; (2020) Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease. Annals of Clinical and Translational Neurology , 7 (12) pp. 2544-2545. 10.1002/acn3.51222. 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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Clarke, BE; Patani, R; (2020) The microglial component of amyotrophic lateral sclerosis. Brain , 143 (12) pp. 3526-3539. 10.1093/brain/awaa309. Green open access
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Clarke, BE; Taha, DM; Tyzack, GE; Patani, R; (2020) Regionally encoded functional heterogeneity of astrocytes in health and disease: A perspective. GLIA 10.1002/glia.23877. (In press). Green open access
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Clarke, BE; Taha, DM; Ziff, OJ; Alam, A; Thelin, EP; García, NM; Helmy, A; (2020) Human stem cell-derived astrocytes exhibit region-specific heterogeneity in their secretory profiles. Brain 10.1093/brain/awaa258. (In press). Green open access
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Clemens, D; Gray, B; Bagnall, R; Tester, D; Dotzler, S; Giudicessi, J; Matthews, E; ... Ackerman, M; + view all (2020) Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population. Circulation: Genomic and Precision Medicine , 13 (2) 10.1161/CIRCGEN.119.002731. Green open access
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Coleman, JRI; Gaspar, HA; Bryois, J; Bipolar Disorder Working Group of the Psychiatric Genomics Conso; (2020) The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls. Biological Psychiatry , 88 (2) pp. 169-184. 10.1016/j.biopsych.2019.10.015. Green open access
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Cornett, KMD; Menezes, MP; Bray, P; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; ... CMTPedS Study Group, .; + view all (2020) Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS. Annals of Clinical and Translational Neurology , 7 (9) pp. 1713-1715. 10.1002/acn3.51145. Green open access
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Cortese, A; Callegari, I; Currò, R; Vegezzi, E; Colnaghi, S; Versino, M; Alfonsi, E; ... Reilly, MM; + view all (2020) Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2020-323719. (In press). Green open access
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Cortese, A; Lombardi, R; Briani, C; Callegari, I; Benedetti, L; Manganelli, F; Luigetti, M; ... Franciotta, D; + view all (2020) Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype. Neurol Neuroimmunol Neuroinflamm , 7 (1) , Article e639. 10.1212/NXI.0000000000000639. (In press). Green open access
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Cortese, A; Lova, L; Comoli, P; Volpe, E; Villa, S; Mallucci, G; La Salvia, S; ... Bergamaschi, R; + view all (2020) Air pollution as a contributor to the inflammatory activity of multiple sclerosis. Journal of Neuroinflammation , 17 (1) , Article 334. 10.1186/s12974-020-01977-0. Green open access
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Cortese, A; Tozza, S; Yau, WY; Rossi, S; Beecroft, SJ; Jaunmuktane, Z; Dyer, Z; ... Reilly, MM; + view all (2020) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain , 143 (2) pp. 480-490. 10.1093/brain/awz418. Green open access
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Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; ... Zuchner, S; + view all (2020) Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics , 52 , Article 640. 10.1038/s41588-020-0649-7. Green open access
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Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; ... Zuchner, S; + view all (2020) Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics , 52 pp. 473-481. 10.1038/s41588-020-0615-4. Green open access
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COVIDSurg Collaborative; (2020) Delaying surgery for patients with a previous SARS-CoV-2 infection. British Journal of Surgery , 107 (12) E601-E602. 10.1002/bjs.12050. Green open access
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Covill-Cooke, C; Toncheva, VS; Drew, J; Birsa, N; López-Doménech, G; Kittler, JT; (2020) Peroxisomal fission is modulated by the mitochondrial Rho-GTPases, Miro1 and Miro2. EMBO Reports , Article e49865. 10.15252/embr.201949865. Green open access
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Cunningham, TJ; Fisher, E; Fratta, P; Gilthorpe, JD; (2020) DNA Editing for Amyotrophic Lateral Sclerosis: Leading Off First Base. The CRISPR Journal , 3 (2) pp. 75-77. 10.1089/crispr.2020.29087.tcu. Green open access
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D

D'Antona, L; Thompson, SD; Thorne, L; Watkins, L; Toma, A; (2020) Letter: Thirty-Day Hospital Readmission and Surgical Complication Rates for Shunting in Normal Pressure Hydrocephalus: A Large National Database Analysis. [Letter]. Neurosurgery , 87 (6) E707-E708. 10.1093/neuros/nyaa386. Green open access
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D'Antona, L; Craven, CL; Merchan, MAJ; Thompson, SD; Bremner, F; Thorne, L; Matharu, M; ... Toma, A; + view all (2020) Paradoxical response of intracranial pressure to shunt valve setting adjustments. Acta Neurochirurgica , 162 pp. 2451-2458. 10.1007/s00701-020-04462-y. Green open access
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D'Antona, L; Palasz, J; Haq, H; Usher, I; De-Saram, S; Curtis, C; Thorne, L; ... Toma, A; + view all (2020) Letter to the Editor: Risk of Hospital-Acquired Coronavirus Disease 2019 (COVID-19) Infection During Admission for Semiurgent Neurosurgical Procedures. World Neurosurgery , 140 pp. 486-488. 10.1016/j.wneu.2020.06.034. Green open access
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Davagnanam, I; Chen, Z; Hoskote, C; Ding, D; Yang, B; Wang, Y; Wang, T; ... Kwan, P; + view all (2020) Prevalence of MRI abnormalities in people with epilepsy in rural China. Neurology , 95 (9) e1236-e1243. 10.1212/WNL.0000000000010171. Green open access
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De La-Rocque, S; Moretto, E; Butnaru, I; Schiavo, G; (2020) Knockin' on heaven's door: Molecular mechanisms of neuronal tau uptake. Journal of Neurochemistry 10.1111/jnc.15144. (In press). Green open access
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De Nittis, P; Efthymiou, S; Sarre, A; Guex, N; Chrast, J; Putoux, A; Sultan, T; ... Reymond, A; + view all (2020) Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. Journal of Medical Genetics 10.1136/jmedgenet-2020-107015. (In press). Green open access
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De Vries, MC; Brown, DA; Allen, ME; Bindoff, L; Gorman, GS; Karaa, A; Keshavan, N; ... Mancuso, M; + view all (2020) Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. Journal of Inherited Metabolic Disease 10.1002/jimd.12196. (In press). Green open access
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Dejaco, C; Alunno, A; Bijlsma, JW; Boonen, A; Combe, B; Finckh, A; Machado, PM; ... Buttgereit, F; + view all (2020) Influence of COVID-19 pandemic on decisions for the management of people with inflammatory rheumatic and musculoskeletal diseases: a survey among EULAR countries. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2020-218697. (In press). Green open access
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Del Caño-Ochoa, F; Ng, BG; Abedalthagafi, M; Almannai, M; Cohn, RD; Costain, G; Elpeleg, O; ... Ramón-Maiques, S; + view all (2020) Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genetics in Medicine 10.1038/s41436-020-0833-2. (In press). Green open access
file

Dermit, M; Dodel, M; Lee, FCY; Azman, MS; Schwenzer, H; Jones, JL; Blagden, SP; ... Mardakheh, FK; + view all (2020) Subcellular mRNA Localization Regulates Ribosome Biogenesis in Migrating Cells. Developmental Cell , 55 (3) 298-313.e10. 10.1016/j.devcel.2020.10.006. Green open access
file

Dominik, N; Galassi Deforie, V; Cortese, A; Houlden, H; (2020) CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions. Journal of Neurology 10.1007/s00415-020-10183-0. (In press). Green open access
file

Doneddu, PE; Bianchi, E; Cocito, D; Manganelli, F; Fazio, R; Filosto, M; Beghi, E; ... Italian CIDP Database Study Group; + view all (2020) Impact of environmental factors and physical activity on disability and quality of life in CIDP. Journal of Neurology , 267 (9) pp. 2683-2691. 10.1007/s00415-020-09916-y. Green open access
file

Doneddu, PE; Cocito, D; Manganelli, F; Fazio, R; Briani, C; Filosto, M; Benedetti, L; ... Italian CIDP Database study group; + view all (2020) Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy. Journal of Neurology, Neurosurgery & Psychiatry , 91 (10) pp. 1092-1099. 10.1136/jnnp-2020-323615. Green open access
file

Donkervoort, S; Kutzner, CE; Hu, Y; Lornage, X; Rendu, J; Stojkovic, T; Baets, J; ... Bönnemann, CG; + view all (2020) Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. American Journal of Human Genetics , 107 (6) pp. 1078-1095. 10.1016/j.ajhg.2020.11.002. Green open access
file

Dreiman, GHS; Bictash, M; Fish, PV; Griffin, L; Svensson, F; (2020) Changing the HTS Paradigm: AI-Driven Iterative Screening for Hit Finding. SLAS Discovery 10.1177/2472555220949495. (In press). Green open access
file

E

Ebanks, K; Lewis, P; Bandopadhyay, R; (2020) Vesicular dysfunction and the pathogenesis of Parkinson’s disease: clues from genetic studies. Fontiers in Neuroscience , 13 , Article 1381. 10.3389/fnins.2019.01381. Green open access
file

Echaniz-Laguna, A; Biancalana, V; Nadaj-Pakleza, A; Fournier, E; Matthews, E; Hanna, MG; Männikkö, R; (2020) Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome. Journal of Neurology, Neurosurgery, and Psychiatry , 91 (8) pp. 898-900. 10.1136/jnnp-2020-323173. Green open access
file

Efthymiou, S; Breza, M; Bourinaris, T; Maroofian, R; Athanasiou-Fragkouli, A; Tzartos, J; Velonakis, G; ... Houlden, H; + view all (2020) A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia. Brain: A Journal of Neurology , 143 (6) , Article e49. 10.1093/brain/awaa120. Green open access
file

Efthymiou, S; Kriouile, Y; Salpietro, V; Hajar, R; Ghizlane, Z; Mankad, K; El Khorassani, M; ... Wiethoff, S; + view all (2020) A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration. Journal of the Neurological Sciences , 410 , Article 116639. 10.1016/j.jns.2019.116639. Green open access
file

El Hayek, L; Tuncay, IO; Nijem, N; Russell, J; Ludwig, S; Kaur, K; Li, X; ... Chahrour, MH; + view all (2020) KDM5A mutations identified in autism spectrum disorder using forward genetics. eLife , 9 , Article e56883. 10.7554/eLife.56883. Green open access
file

Ellul, M; Varatharaj, A; Nicholson, TR; Pollak, TA; Thomas, N; Easton, A; Zandi, MS; ... CoroNerve Steering Committee; + view all (2020) Defining causality in COVID-19 and neurological disorders. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2020-323667. (In press). Green open access
file

Estevez-Fraga, C; Magrinelli, F; Latorre, A; Houlden, H; Tabrizi, SJ; Bhatia, K; (2020) Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene. Presented at: MDS Virtual Congress 2020, Online conference. Green open access
file

Estevez-Fraga, C; Magrinelli, F; Latorre, A; Cordivari, C; Houlden, H; Tinazzi, M; Hemingway, C; ... Bhatia, KP; + view all (2020) A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers. Parkinsonism and Related Disorders , 79 pp. 97-99. 10.1016/j.parkreldis.2020.08.016. Green open access
file

F

Felisaz, PF; Belatti, E; Deligianni, X; Bergsland, N; Santini, F; Paoletti, M; Solazzo, F; ... Pichiecchio, A; + view all (2020) Variable echo time imaging for detecting the short T2* components of the sciatic nerve: a validation study. Magnetic Resonance Materials in Physics, Biology and Medicine 10.1007/s10334-020-00886-w. (In press). Green open access
file

Fellows, AD; Rhymes, ER; Gibbs, KL; Greensmith, L; Schiavo, G; (2020) IGF1R regulates retrograde axonal transport of signalling endosomes in motor neurons. EMBO Reports , Article e49129. 10.15252/embr.201949129. (In press). Green open access
file

Ferreira, RJO; Welsing, PMJ; Jacobs, JWG; Gossec, L; Ndosi, M; Machado, PM; van der Heijde, D; (2020) Revisiting the use of remission criteria for rheumatoid arthritis by excluding patient global assessment: an individual meta-analysis of 5792 patients. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2020-217171. (In press). Green open access
file

Fournier, J; Saleem, AB; Diamanti, EM; Wells, MJ; Harris, KD; Carandini, M; (2020) Mouse Visual Cortex Is Modulated by Distance Traveled and by Theta Oscillations. Current Biology 10.1016/j.cub.2020.07.006. Green open access
file

Franklin, JP; Cooper-Knock, J; Baheerathan, A; Moll, T; Männikkö, R; Heverin, M; Hardiman, O; ... Hanna, MG; + view all (2020) Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 10.1080/21678421.2020.1786128. (In press). Green open access
file

Fratta, P; Birsa, N; Tosolini, A; Schiavo, G; (2020) Travelling Together: A Unifying Pathomechanism for ALS. Trends in Neurosciences , 43 (1) pp. 1-2. 10.1016/j.tins.2019.10.006. Green open access
file

Fridman, V; Sillau, S; Acsadi, G; Bacon, C; Dooley, K; Burns, J; Day, J; ... Shy, ME; + view all (2020) A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology , 94 (9) E884-E896. 10.1212/WNL.0000000000009035. Green open access
file

Funnell, JP; D'Antona, L; Craven, C; Thorne, L; Watkins, L; Toma, A; (2020) Ultra-low pressure hydrocephalic state in NPH: benefits of therapeutic siphoning with adjustable anti-gravity valves. Acta Neurochirurgica , 162 pp. 2967-2974. 10.1007/s00701-020-04596-z. Green open access
filefilefile

G

Gajduskova, P; Ruiz de los Mozos, I; Rajecky, M; Hluchy, M; Ule, J; Blazek, D; (2020) CDK11 is required for transcription of replication-dependent histone genes. Nature Structural and Molecular Biology , 27 pp. 500-510. 10.1038/s41594-020-0406-8. Green open access
file

Gang, Q; Bettencourt, C; Holton, J; Lovejoy, C; Chelban, V; Oconnor, E; Yuan, Y; ... Houlden, H; + view all (2020) A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres. Journal of Neurology 10.1007/s00415-020-09827-y. (In press). Green open access
file

Gardiner, PV; Small, D; Muñoz-Esquivel, K; Condell, J; Cuesta-Vargas, A; Williams, J; Machado, PM; (2020) Validity and reliability of a sensor-based electronic spinal mobility index for axial spondyloarthritis. Rheumatology , 59 (11) pp. 3415-3423. 10.1093/rheumatology/keaa122. Green open access
file

Gianfrancesco, M; Hyrich, KL; Al-Adely, S; Carmona, L; Danila, MI; Gossec, L; Izadi, Z; ... COVID-19 Global Rheumatology Alliance; + view all (2020) Characteristics associated with hospitalisation for COVID-19 in people with rheumatic disease: data from the COVID-19 Global Rheumatology Alliance physician-reported registry. Annals of the Rheumatic Diseases , 79 (7) pp. 859-866. 10.1136/annrheumdis-2020-217871. Green open access
file

Gianfrancesco, MA; Hyrich, KL; Gossec, L; Strangfeld, A; Carmona, L; Mateus, EF; Sufka, P; ... COVID-19 Global Rheumatology Alliance Steering Committee; + view all (2020) Rheumatic disease and COVID-19: initial data from the COVID-19 Global Rheumatology Alliance provider registries. The Lancet Rheumatology , 2 (5) e250-e253. 10.1016/S2665-9913(20)30095-3. Green open access
file

Glasbey, JC; Omar, O; Nepogodiev, D; Minaya-Bravo, A; Bankhead-Kendall, BK; Fiore, M; Futaba, K; ... Scasso, S; + view all (2020) Preoperative nasopharyngeal swab testing and postoperative pulmonary complications in patients undergoing elective surgery during the SARS-CoV-2 pandemic. British Journal of Surgery , 108 (1) pp. 88-96. 10.1093/bjs/znaa051. Green open access
file

Glennon, EB; Lau, DHW; Gabriele, RMC; Taylor, MF; Troakes, C; Opie-Martin, S; Elliott, C; ... Noble, W; + view all (2020) Bridging integrator 1 protein loss in Alzheimer’s disease promotes synaptic tau accumulation and disrupts tau release. Brain Communications , 2 (1) , Article fcaa011. 10.1093/braincomms/fcaa011. Green open access
file

Glover, IS; Baker, SN; (2020) Cortical, corticospinal and reticulospinal contributions to strength training. Journal of Neuroscience 10.1523/JNEUROSCI.1923-19.2020. (In press). Green open access
file

González, AG; Lazo, OM; Bronfman, FC; (2020) The Rab5–Rab11 Endosomal Pathway is Required for BDNF-Induced CREB Transcriptional Regulation in Hippocampal Neurons. The Journal of Neuroscience , 40 (42) pp. 8042-8054. 10.1523/JNEUROSCI.2063-19.2020. Green open access
file

Grainger, R; Machado, PM; Robinson, PC; (2020) Novel coronavirus disease-2019 (COVID-19) in people with rheumatic disease: Epidemiology and outcomes. Best Practice & Research Clinical Rheumatology , Article 101657. 10.1016/j.berh.2020.101657. (In press). Green open access
file

Gratwicke, J; Oswal, A; Akram, H; Jahanshahi, M; Hariz, M; Zrinzo, L; Foltynie, T; (2020) Resting state activity and connectivity of the nucleus basalis of Meynert and globus pallidus in Lewy body dementia and Parkinson's disease dementia. NeuroImage , 221 , Article 117184. 10.1016/j.neuroimage.2020.117184. Green open access
file

Gratwicke, J; Zrinzo, L; Kahan, J; Peters, A; Brechany, U; McNichol, A; Beigi, M; ... Foltynie, T; + view all (2020) Bilateral Nucleus Basalis of Meynert Deep Brain Stimulation for dementia with Lewy bodies A Randomised Clinical Trial. Brain Stimulation 10.1016/j.brs.2020.04.010. (In press). Green open access
file

Gray, AL; Annan, L; Dick, JRT; La Spada, AR; Hanna, MG; Greensmith, L; Malik, B; (2020) Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice. Disease Models & Mechanisms 10.1242/dmm.042424. (In press). Green open access
file

Green, SF; Nguyen, P; Kaalund-Hansen, K; Rajakulendran, S; Murphy, E; (2020) Effectiveness, retention, and safety of modified ketogenic diet in adults with epilepsy at a tertiary-care centre in the UK. Journal of Neurology , 267 pp. 1171-1178. 10.1007/s00415-019-09658-6. Green open access
file

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
file

Guo, Y; Rist, PM; Daghlas, I; Giulianini, F; International Headache Genetics Consortium; 23andMe Research Team; Kurth, T; (2020) A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine. Nature Communications , 11 (1) , Article 3368. 10.1038/s41467-020-17002-0. Green open access
file

H

Hall-Craggs, MA; Bray, TJP; Jones, A; Marzo-Ortega, H; Machado, PM; (2020) Comment on: Recommendations for acquisition and interpretation of MRI of the spine and sacroiliac joints in the diagnosis of axial spondyloarthritis in the UK: reply. Rheumatology , 59 (1) pp. 261-262. 10.1093/rheumatology/kez510. Green open access
file

Harley, J; Hagemann, C; Serio, A; Patani, R; (2020) FUS is lost from nuclei and gained in neurites of motor neurons in a human stem cell model of VCP-related ALS. Brain , Article awaa339. 10.1093/brain/awaa339. (In press). Green open access
file

Harley, J; Patani, R; (2020) Stress-Specific Spatiotemporal Responses of RNA-Binding Proteins in Human Stem-Cell-Derived Motor Neurons. International Journal of Molecular Sciences , 21 (21) 10.3390/ijms21218346. Green open access
file

Harris, L; Hill, CS; (2020) Craniectomy size for subdural haematomas and the impact on brain shift and outcomes. Acta Neurochirurgica 10.1007/s00701-020-04448-w. (In press). Green open access
file

Hashizume, A; Fischbeck, KH; Pennuto, M; Fratta, P; Katsuno, M; (2020) Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). Journal of Neurology, Neurosurgery & Psychiatry , 91 (10) pp. 1085-1091. 10.1136/jnnp-2020-322949. Green open access
file

Hathazi, D; Griffin, H; Jennings, MJ; Giunta, M; Powell, C; Pearce, SF; Munro, B; ... Horvath, R; + view all (2020) Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. EMBO Journal , Article e105364. 10.15252/embj.2020105364. Green open access
file

Hausmann, JS; Sufka, P; Bhana, S; Liew, JW; Machado, PM; Wallace, ZS; Costello, W; ... Sirotich, E; + view all (2020) Conducting research in a pandemic: The power of social media. European Journal of Rheumatology , 7 (Suppl. 2) S85-S88. 10.5152/eurjrheum.2020.2066. Green open access
file

Hayward, RJ; Machado, PM; (2020) Classification Criteria in Axial Spondyloarthritis: What Have We Learned; Where Are We Going? Rheumatic Disease Clinics of North America , 46 (2) pp. 259-274. 10.1016/j.rdc.2020.01.008. Green open access
file

Hill, CS; Borg, A; Tahir, MZ; Thompson, DNP; (2020) Atlantoaxial rotatory fixation in childhood: a staged management strategy incorporating manipulation under anaesthesia. Child's Nervous System 10.1007/s00381-020-04727-y. (In press). Green open access
file

Hill, CS; Devesa, SC; Ince, W; Borg, A; Aquilina, K; (2020) A systematic review of ongoing clinical trials in optic pathway gliomas. Child's Nervous System 10.1007/s00381-020-04724-1. (In press). Green open access
file

Hill, CS; Muirhead, WR; Vakharia, VN; Marcus, HJ; Choi, D; (2020) An Exit Strategy for Resuming Nonemergency Neurosurgery after Severe Acute Respiratory Syndrome Coronavirus 2: A United Kingdom Perspective. World Neurosurgery , 140 e395-e400. 10.1016/j.wneu.2020.05.246. Green open access
file

Hill, CS; Sreedharan, J; Loreto, A; Menon, DK; Coleman, MP; (2020) Loss of highwire Protects Against the Deleterious Effects of Traumatic Brain Injury in Drosophila Melanogaster. Frontiers in Neurology , 11 , Article 401. 10.3389/fneur.2020.00401. Green open access
file

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
file

Horatscheck, A; Andrijevic, A; Nchinda, AT; Le Manach, C; Paquet, T; Khonde, LP; Dam, J; ... Chibale, K; + view all (2020) Identification of 2,4-Disubstituted Imidazopyridines as Hemozoin Formation Inhibitors with Fast-Killing Kinetics and In Vivo Efficacy in the Plasmodium falciparum NSG Mouse Model. Journal of Medicinal Chemistry , 63 (21) pp. 13013-13030. 10.1021/acs.jmedchem.0c01411. Green open access
file

Horsfall, HL; Palmisciano, P; Khan, DZ; Muirhead, W; Koh, CH; Stoyanov, D; Marcus, HJ; (2020) Attitudes of the Surgical Team Toward Artificial Intelligence in Neurosurgery: an International Two-Stage Cross-sectional Survey. World Neurosurgery 10.1016/j.wneu.2020.10.171. (In press). Green open access
file

Hostettler, IC; Pavlou, M; Ambler, G; Alg, VS; Bonner, S; Walsh, DC; Bulters, D; ... Werring, DJ; + view all (2020) Assessment of the Subarachnoid Hemorrhage International Trialists (SAHIT) Models for Dichotomized Long-Term Functional Outcome Prediction After Aneurysmal Subarachnoid Hemorrhage in a United Kingdom Multicenter Cohort Study. Neurosurgery , 87 (6) pp. 1269-1276. 10.1093/neuros/nyaa299. Green open access
filefile

Hostettler, IC; Morton, MJ; Ambler, G; Kazmi, N; Gaunt, T; Wilson, D; Shakeshaft, C; ... CROMIS-2 collaborators; + view all (2020) Haptoglobin genotype and outcome after spontaneous intracerebral haemorrhage. Journal of Neurology, Neurosurgery and Psychiatry , 91 (3) pp. 298-304. 10.1136/jnnp-2019-321774. Green open access
file

Hostettler, IC; O'Callaghan, B; Bugiardini, E; O'Connor, E; Vandrovcova, J; Davagnanam, I; Alg, V; ... Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, .; + view all (2020) ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms. Neurology 10.1212/WNL.0000000000011125. (In press). Green open access
file

Huber, E; Patel, R; Hupp, M; Weiskopf, N; Chakravarty, MM; Freund, P; (2020) Extrapyramidal plasticity predicts recovery after spinal cord injury. Scientific Reports , 10 (1) , Article 14102. 10.1038/s41598-020-70805-5. Green open access
file

Humphrey, J; Birsa, N; Milioto, C; McLaughlin, M; Ule, AM; Robaldo, D; Eberle, AB; ... Fratta, P; + view all (2020) FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic Acids Research 10.1093/nar/gkaa410. (In press). Green open access
file

I

Ilyas, M; Efthymiou, S; Salpietro, V; Noureen, N; Zafar, F; Rauf, S; Mir, A; (2020) Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. BMC Medical Genetics , 21 , Article 59. 10.1186/s12881-020-00998-z. Green open access
file

Ilyas, M; Mir, A; Efthymiou, S; Houlden, H; (2020) The genetics of intellectual disability: advancing technology and gene editing [version 1; peer review: 2 approved]. F1000Research , 9 , Article 22. 10.12688/f1000research.16315.1. Green open access
file

Ilyas, M; Salpietro, V; Efthymiou, S; Bourinaris, T; Tariq, A; Imdad, M; Ahmad, A; ... Houlden, H; + view all (2020) Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach. Neurological Sciences , 41 pp. 851-857. 10.1007/s10072-019-04113-w. Green open access
file

Iwaki, Hirotaka; Blauwendraat, Cornelis; Makarious, Mary B; Bandrés‐Ciga, Sara; Leonard, Hampton L; Gibbs, J Raphael; Hernandez, Dena G; ... Sadykova, Dinara; + view all (2020) Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score. Movement Disorders , 35 (5) pp. 774-780. 10.1002/mds.27974.

J

Jacobs, EAK; Steinmetz, NA; Peters, AJ; Carandini, M; Harris, KD; (2020) Cortical State Fluctuations during Sensory Decision Making. Current Biology , 30 (24) 4944-4955.e7. 10.1016/j.cub.2020.09.067. Green open access
file

Jarvis, S; Birsa, N; Secrier, M; Fratta, P; Plagnol, V; (2020) A Comparison of Low Read Depth QuantSeq 3 ' Sequencing to Total RNA-Seq in FUS Mutant Mice. Frontiers in Genetics , 11 , Article 562445. 10.3389/fgene.2020.562445. Green open access
file

Jitpimolmard, N; Matthews, E; Fialho, D; (2020) Treatment Updates for Neuromuscular Channelopathies. Current Treatment Options in Neurology , 22 (10) 10.1007/s11940-020-00644-2. Green open access
file

Johnson, KA; Duffley, G; Foltynie, T; Hariz, M; Zrinzo, L; Joyce, EM; Akram, H; ... Butson, CR; + view all (2020) Basal Ganglia Pathways Associated With Therapeutic Pallidal Deep Brain Stimulation for Tourette Syndrome. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging 10.1016/j.bpsc.2020.11.005. (In press). Green open access
file

K

Kaiyrzhanov, R; Aitkulova, A; Shashkin, C; Zharkinbekova, N; Rizig, M; Zholdybayeva, E; Jarmukhanov, Z; ... Houlden, H; + view all (2020) LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan. Parkinson's Disease , Article 2763838. 10.1155/2020/2763838. Green open access
file

Kaiyrzhanov, R; Zharkinbekova, N; Shashkin, C; Khaibullin, T; Kaishibayeva, G; Akhmetzhanov, V; Sadykova, DZ; ... Houlden, H; + view all (2020) Parkinson's Disease in Kazakhstan: Clinico-Demographic Description of a Large Cohort. Journal of Parkinson’s Disease , 10 (2) pp. 707-709. 10.3233/JPD-191782. Green open access
file

Kapoor, M; Reilly, MM; Manji, H; Lunn, MP; Aisling, SC; (2020) Dramatic clinical response to ultra-high dose IVIg in otherwise treatment resistant inflammatory neuropathies. International Journal of Neuroscience 10.1080/00207454.2020.1815733. (In press). Green open access
file

Keddie, S; Ziff, O; Chou, MKL; Taylor, RL; Heslegrave, A; Garr, E; Lakdawala, N; ... Lunn, MP; + view all (2020) Laboratory biomarkers associated with COVID-19 severity and management. Clinical Immunology , 221 , Article 108614. 10.1016/j.clim.2020.108614. Green open access
file

Keddie, S; Foldes, D; Caimari, F; Baldeweg, SE; Bomsztyk, J; Ziff, OJ; Fehmi, J; ... Lunn, MP; + view all (2020) Clinical characteristics, risk factors, and outcomes of POEMS syndrome: A longitudinal cohort study. Neurology , 95 (3) e268-e279. 10.1212/WNL.0000000000009940. Green open access
file

Keddie, S; Nagendran, A; Cox, T; Bomsztyk, J; Jaunmuktane, Z; Brandner, S; Manji, H; ... Lunn, MP; + view all (2020) Peripheral nerve neurolymphomatosis: clinical features, treatment and outcomes. Muscle & Nerve , 62 (5) pp. 617-625. 10.1002/mus.27045. Green open access
file

Keh, R; Kahlil, A; Nihoyannopoulos, L; Compton, L; Kapoor, M; Gosal, D; Manji, H; ... Carr, AS; + view all (2020) Routine blood monitoring in maintenance immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant? Journal of the Neurological Sciences , 408 , Article 116527. 10.1016/j.jns.2019.116527. Green open access
file

Keller, N; Mendoza-Ferreira, N; Maroofian, R; Chelban, V; Khalil, Y; Mills, PB; Boostani, R; ... Karakaya, M; + view all (2020) Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromuscular Disorders , 30 (7) pp. 583-589. 10.1016/j.nmd.2020.04.004. Green open access
file

Keshavan, N; Abdenur, J; Anderson, G; Assouline, Z; Barcia, G; Bouhikbar, L; Chakrapani, A; ... Rahman, S; + view all (2020) The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genetics in Medicine , 22 pp. 199-209. 10.1038/s41436-019-0613-z. Green open access
file

Khan, DZ; Bandyopadhyay, S; Patel, V; Schroeder, BE; Cabrilo, I; Choi, D; Cudlip, SA; ... Williams, A; + view all (2020) CSF rhinorrhoea after endonasal intervention to the anterior skull base (CRANIAL): proposal for a prospective multicentre observational cohort study. British Journal of Neurosurgery 10.1080/02688697.2020.1795622. (In press). Green open access
file

Khan, DZ; Muskens, IS; Mekary, RA; Zamanipoor Najafabadi, AH; Helmy, AE; Reisch, R; Broekman, MLD; (2020) The endoscope-assisted supraorbital "keyhole" approach for anterior skull base meningiomas: an updated meta-analysis. Acta Neurochirurgica 10.1007/s00701-020-04544-x. (In press). Green open access
file

Khoo, A; McLoughlin, B; Cheema, S; Weil, RS; Lambert, C; Manji, H; Zandi, MS; (2020) Postinfectious brainstem encephalitis associated with SARS-CoV-2. Journal of Neurology, Neurosurgery & Psychiatry , 91 (9) pp. 1013-1014. 10.1136/jnnp-2020-323816. Green open access
file

Kleerekooper, I; Leo, S; Davagnanam, I; Del Porto, L; Guajardo, JM; Dell'Arti, L; Robson, A; ... Petzold, A; + view all (2020) A prognostically relevant functional-structural relationship in acute optic neuritis. Presented at: 8th Joint ACTRIMS-ECTRIMS Meeting (MSVirtual), ELECTR NETWORK. Green open access
file

Knol, MJ; Lu, D; Traylor, M; Adams, HH; Rafael J Romero, J; Smith, AV; Fornage, M; ... Alzheimer’s Disease Neuroimaging Initiative; + view all (2020) Association of common genetic variants with brain microbleeds: A Genome-wide Association Study. Neurology 10.1212/WNL.0000000000010852. (In press). Green open access
file

Konig, MF; Kim, AH; Scheetz, MH; Graef, ER; Liew, JW; Simard, J; Machado, PM; ... COVID-19 Global Rheumatology Alliance; + view all (2020) Baseline use of hydroxychloroquine in systemic lupus erythematosus does not preclude SARS-CoV-2 infection and severe COVID-19. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2020-217690. (In press). Green open access
file

Kumar, KR; Cortese, A; Tomlinson, SE; Efthymiou, S; Ellis, M; Zhu, D; Stoll, M; ... Kennerson, M; + view all (2020) RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome. Brain , 143 (10) , Article e82. 10.1093/brain/awaa244. Green open access
file

L

Laires, PA; Carrilho, M; Tavares-Costa, J; Lucas, P; Machado, P; Cunha-Miranda, L; Pimentel-Santos, F; ... Santos, MJ; + view all (2020) Development and validation of psoriatic arthritis switch quality assessment tool (PASQAL) - an outcomes measurement tool to assess the quality of biologic switch decisions in psoriatic arthritis. Acta Reumatológica Portuguesa , 45 (1) pp. 46-57. Green open access
file

Lambru, G; Rantell, K; O'Connor, E; Levy, A; Davagnanam, I; Zrinzo, L; Matharu, M; (2020) Trigeminal neurovascular contact in SUNCT and SUNA: a cross-sectional magnetic resonance study. Brain 10.1093/brain/awaa331. (In press). Green open access
file

Landewé, RB; Machado, PM; Kroon, F; Bijlsma, HW; Burmester, GR; Carmona, L; Combe, B; ... Schulze-Koops, H; + view all (2020) EULAR provisional recommendations for the management of rheumatic and musculoskeletal diseases in the context of SARS-CoV-2. Annals of the Rheumatic Diseases , 79 (7) pp. 851-858. 10.1136/annrheumdis-2020-217877. Green open access
file

Lang, AE; Stebbins, GT; Wang, P; Jabbari, E; Lamb, R; Morris, H; Boxer, AL; ... PROSPECT-M-UK investigators; + view all (2020) The Cortical Basal ganglia Functional Scale (CBFS): Development and preliminary validation. Parkinsonism & Related Disorders , 79 pp. 121-126. 10.1016/j.parkreldis.2020.08.021. Green open access
file

Lau, DHW; Paillusson, S; Hartopp, N; Rupawala, H; Mórotz, GM; Gomez-Suaga, P; Greig, J; ... Miller, CCJ; + view all (2020) Disruption of endoplasmic reticulum-mitochondria tethering proteins in post-mortem Alzheimer's disease brain. Neurobiology of Disease , 143 , Article 105020. 10.1016/j.nbd.2020.105020. Green open access
file

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
file

Lavender, AP; Balkozak, S; Özyurt, MG; Topkara, B; Karacan, İ; Bilici, İ; Hill, A-M; (2020) Effect of aging on H-reflex response to fatigue. Experimental Brain Research , 238 pp. 273-282. 10.1007/s00221-019-05708-7. Green open access
file

Lee, Julie J; (2020) Task selectivity in mouse parietal cortex. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

Leese, C; Bresnahan, R; Doran, C; Simsek, D; Fellows, AD; Restani, L; Caleo, M; ... Davletov, B; + view all (2020) Duplication of clostridial binding domains for enhanced macromolecular delivery into neurons. Toxicon: X , 5 , Article 100019. 10.1016/j.toxcx.2019.100019. Green open access
file

Leutritz, T; Seif, M; Helms, G; Samson, RS; Curt, A; Freund, P; Weiskopf, N; (2020) Multiparameter mapping of relaxation (R1,R2*), proton density and magnetization transfer saturation at3 T: A multicenter dual-vendor reproducibility and repeatability study. Human Brain Mapping 10.1002/hbm.25122. (In press). Green open access
file

Lewis, PA; Plun-Favreau, H; Rowley, M; Spillane, J; (2020) Pierre D. and the first photographs of Parkinson's disease. Movement Disorders 10.1002/mds.27965. (In press). Green open access
file

Liberatore, G; Manganelli, F; Cocito, D; Fazio, R; Briani, C; Filosto, M; Benedetti, L; ... Italian CIDP Database Study Group; + view all (2020) Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database. Journal of the Peripheral Nervous System , 25 (2) pp. 152-161. 10.1111/jns.12378. Green open access
file

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
file

Loreto, A; Hill, CS; Hewitt, VL; Orsomando, G; Angeletti, C; Gilley, J; Lucci, C; ... Coleman, MP; + view all (2020) Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration. Neurobiology of Disease , 134 , Article 104678. 10.1016/j.nbd.2019.104678. Green open access
file

M

Ma, D; Cardoso, MJ; Zuluaga, MA; Modat, M; Powell, NM; Wiseman, FK; Cleary, JO; ... Ourselin, SE; + view all (2020) Substantially thinner internal granular layer and reduced molecular layer surface in the cerebellar cortex of the Tc1 mouse model of down syndrome – a comprehensive morphometric analysis with active staining contrast-enhanced MRI. NeuroImage , 223 , Article 117271. 10.1016/j.neuroimage.2020.117271. Green open access
file

Machado, PM; (2020) Inhibition of interleukin-17 in axial spondyloarthritis spectrum. The Lancet , 395 (10217) pp. 6-8. 10.1016/S0140-6736(19)33047-8. Green open access
file

Maggi, L; Matthews, E; Desaphy, J-F; (2020) Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field. Frontiers in Neurology , 11 , Article 626772. 10.3389/fneur.2020.626772. Green open access
file

Magrinelli, F; Latorre, A; Balint, B; Mackenzie, M; Mulroy, E; Stamelou, M; Tinazzi, M; (2020) Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria. Parkinsonism & Related Disorders , 77 pp. 121-140. 10.1016/j.parkreldis.2020.04.010. Green open access
file

Mahmoud, SY; Svensson, F; Zoufir, A; Modos, D; Afzal, AM; Bender, A; (2020) Understanding Conditional Associations between ToxCast in Vitro Readouts and the Hepatotoxicity of Compounds Using Rule-Based Methods. Chemical Research in Toxicology , 33 (1) pp. 137-153. 10.1021/acs.chemrestox.8b00382. Green open access
file

Mahy, W; Patel, M; Steadman, D; Woodward, HL; Atkinson, BN; Svensson, F; Willis, NJ; ... Fish, PV; + view all (2020) Screening of a Custom-Designed Acid Fragment Library Identifies 1-Phenylpyrroles and 1-Phenylpyrrolidines as Inhibitors of Notum Carboxylesterase Activity. Journal of Medicinal Chemistry , 63 (17) pp. 9464-9483. 10.1021/acs.jmedchem.0c00660. Green open access
file

Mahy, W; Willis, NJ; Zhao, Y; Woodward, HL; Svensson, F; Sipthorp, J; Vecchia, L; ... Fish, PV; + view all (2020) 5-Phenyl-1,3,4-oxadiazol-2(3H)-ones Are Potent Inhibitors of Notum Carboxylesterase Activity Identified by the Optimization of a Crystallographic Fragment Screening Hit. Journal of Medicinal Chemistry , 63 (21) pp. 12942-12956. 10.1021/acs.jmedchem.0c01391. Green open access
file

Maia, LF; Maceski, A; Conceicao, I; Obici, L; Magalhaes, R; Cortese, A; Leppert, D; ... Saraiva, MJ; + view all (2020) Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy. Amyloid , 27 (2) pp. 97-102. 10.1080/13506129.2019.1708716. Green open access
filefilefilefilefile

Maksymowych, WP; Pedersen, SJ; Weber, U; Baraliakos, X; Machado, PM; Eshed, I; De Hooge, M; ... Lambert, RGW; + view all (2020) Central reader evaluation of MRI scans of the sacroiliac joints from the ASAS classification cohort: discrepancies with local readers and impact on the performance of the ASAS criteria. Annals of the Rheumatic Diseases , 79 pp. 935-942. 10.1136/annrheumdis-2020-217232. Green open access
file

Manole, A; Efthymiou, S; O'Connor, E; Mendes, MI; Jennings, M; Maroofian, R; Davagnanam, I; ... Houlden, H; + view all (2020) De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics , 107 (2) pp. 311-324. 10.1016/j.ajhg.2020.06.016. Green open access
file

Maroofian, R; Sedmík, J; Mazaheri, N; Scala, M; Zaki, MS; Keegan, LP; Azizimalamiri, R; ... Houlden, H; + view all (2020) Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. Journal of Medical Genetics 10.1136/jmedgenet-2020-107048. (In press). Green open access
file

Marques, ML; Ramiro, S; Machado, PM; van der Heijde, D; van Gaalen, FA; (2020) No relationship between bone mineral density and syndesmophyte formation at the same level in the lumbar spine of patients with radiographic axial Spondyloarthritis. RMD Open , 6 (3) 10.1136/rmdopen-2020-001391. Green open access
file

Martin, PB; Kigoshi-Tansho, Y; Sher, RB; Ravenscroft, G; Stauffer, JE; Kumar, R; Yonashiro, R; ... Cox, GA; + view all (2020) NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nature Communications , 11 , Article 4625. 10.1038/s41467-020-18327-6. Green open access
file

Martinelli-Boneschi, F; Currò, R; Santoro, S; Berzero, G; Sorosina, M; Ferrè, L; Mascia, E; ... Marchioni, E; + view all (2020) Impact of multiple sclerosis risk loci in postinfectious neurological syndromes. Multiple Sclerosis and Related Disorders , 44 , Article 102326. 10.1016/j.msard.2020.102326. Green open access
file

Matalonga, L; Laurie, S; Papakonstantinou, A; Piscia, D; Mereu, E; Bullich, G; Thompson, R; ... RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Con, .; + view all (2020) Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. The Journal of Molecular Diagnostics , 22 (9) pp. 1205-1215. 10.1016/j.jmoldx.2020.06.008. Green open access
file

Matthews, E; Balestrini, S; Sisodiya, SM; Hanna, MG; (2020) Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches. The Lancet Child & Adolescent Health , 4 (7) pp. 536-547. 10.1016/S2352-4642(19)30425-0. Green open access
file

Mc Lernon, S; Schwarz, G; Wilson, D; Ambler, G; Goodwin, R; Shakeshaft, C; Cohen, H; ... CROMIS-2 Collaborators; + view all (2020) Association between critical care admission and 6-month functional outcome after spontaneous intracerebral haemorrhage. Journal of the Neurological Sciences , 418 , Article 117141. 10.1016/j.jns.2020.117141. Green open access
filefile

McHugh, JA; DʼAntona, L; Toma, AK; Bremner, FD; (2020) Spontaneous Venous Pulsations Detected With Infrared Videography. Journal of Neuro-Ophthalmology , 40 (2) pp. 174-177. 10.1097/WNO.0000000000000815. Green open access
file

Mech, A; Brown, A-L; Schiavo, G; Sleigh, J; (2020) Morphological variability is greater at developing than mature mouse neuromuscular junctions. Journal of Anatomy , 237 (4) pp. 603-617. 10.1111/joa.13228. Green open access
file

Meindl, T; Cordts, I; Scherzer, A-L; Lingor, P; Maegerlein, C; Galassi Deforie, V; Dominik, N; ... Deschauer, M; + view all (2020) CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia. Der Nervenarzt 10.1007/s00115-020-00912-1. (In press). Green open access
file

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
file

Modic, M; Cacchiarelli, D; Ten Berge, D; (2020) Integrative biology studies in pluripotent stem cells. Stem Cell Research , 42 , Article 101686. 10.1016/j.scr.2019.101686. Green open access
file

Molenaar, JP; Verhoeven, JI; Rodenburg, RJ; Kamsteeg, EJ; Erasmus, CE; Vicart, S; Behin, A; ... Sternberg, D; + view all (2020) Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. Brain , 143 (2) pp. 452-466. 10.1093/brain/awz410. Green open access
file

Morton, MJ; Hostettler, IC; Kazmi, N; Alg, VS; Bonner, S; Brown, MM; Durnford, A; ... Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, .; + view all (2020) Haptoglobin genotype and outcome after aneurysmal subarachnoid haemorrhage. Journal of Neurology, Neurosurgery & Psychiatry , 91 (3) pp. 305-313. 10.1136/jnnp-2019-321697. Green open access
file

Mulholland, CB; Nishiyama, A; Ryan, J; Nakamura, R; Yiğit, M; Glück, IM; Trummer, C; ... Leonhardt, H; + view all (2020) Recent evolution of a TET-controlled and DPPA3/STELLA-driven pathway of passive DNA demethylation in mammals. Nature Communications , 11 , Article 5972. 10.1038/s41467-020-19603-1. Green open access
file

Mulholland, CB; Traube, FR; Ugur, E; Parsa, E; Eckl, E-M; Schönung, M; Modic, M; ... Bultmann, S; + view all (2020) Distinct and stage-specific contributions of TET1 and TET2 to stepwise cytosine oxidation in the transition from naive to primed pluripotency. Scientific Reports , 10 (1) , Article 12066. 10.1038/s41598-020-68600-3. Green open access
file

N

Naegy, A; van Genderen, E; Escudero, I; Modic, M; et, A; ten Berge, D; (2020) In vitro capture and characterization of embryonic rosette-stage pluripotency between naive and primed states. Nature Cell Biology , 22 pp. 534-545. 10.1038/s41556-020-0508-x. Green open access
file

Nair, RR; Tibbit, C; Thompson, D; McLeod, R; Nakhuda, A; Simon, MM; Baloh, RH; ... Cunningham, TJ; + view all (2020) Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs. Methods 10.1016/j.ymeth.2020.07.007. (In press). Green open access
file

Napoli, JL; Camalier, CR; Brown, AL; Jacobs, J; Mishkin, MM; Averbeck, BB; (2020) Correlates of Auditory Decision-Making in Prefrontal, Auditory, and Basal Lateral Amygdala Cortical Areas. The Journal of Neuroscience , 41 (6) pp. 1301-1316. 10.1523/JNEUROSCI.2217-20.2020. Green open access
file

Nardello, R; Fontana, A; Donato Mangano, G; Efthymiou, S; Salpietro, V; Houlden, H; Mangano, S; (2020) Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants. Epileptic Disorders , 22 (1) pp. 111-115. 10.1684/epd.2020.1138. Green open access
file

Nascimento, F; Broadhead, MJ; Tetringa, E; Tsape, E; Zagoraiou, L; Miles, G; (2020) Synaptic mechanisms underlying modulation of locomotor-related motoneuron output by premotor cholinergic interneurons. eLife , 9 , Article e54170. 10.7554/elife.54170. (In press). Green open access
file

Nemani, T; Steel, D; Kaliakatsos, M; DeVile, C; Ververi, A; Scott, R; Getov, S; ... Munot, P; + view all (2020) KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement. Journal of the Peripheral Nervous System , 25 (2) pp. 117-124. 10.1111/jns.12368. Green open access
file

Neuray, C; Maroofian, R; Scala, M; Sultan, T; Pai, GS; Mojarrad, M; El Khashab, H; ... Houlden, H; + view all (2020) Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain 10.1093/brain/awaa178. (In press). Green open access
file

Noorani, I; de la Rosa, J; Choi, Y; Strong, A; Ponstingl, H; Vijayabaskar, MS; Lee, J; ... Bradley, A; + view all (2020) PiggyBac mutagenesis and exome sequencing identify genetic driver landscapes and potential therapeutic targets of EGFR-mutant gliomas. Genome Biology , 21 , Article 181. 10.1186/s13059-020-02092-2. Green open access
file

Norinder, U; Spjuth, O; Svensson, F; (2020) Using Predicted Bioactivity Profiles to Improve Predictive Modeling. Journal of Chemical Information and Modeling , 60 (6) pp. 2830-2837. 10.1021/acs.jcim.0c00250. Green open access
file

O

O'Connor, E; Simpson, BS; Houlden, H; Vandrovcova, J; Matharu, M; (2020) Prevalence of familial cluster headache: a systematic review and meta-analysis. The Journal of Headache and Pain , 21 , Article 37. 10.1186/s10194-020-01101-w. Green open access
file

Ojo, OO; Abubakar, SA; Iwuozo, EU; Nwazor, EO; Ekenze, OS; Farombi, TH; Akinyemi, RO; ... Okubadejo, NU; + view all (2020) The Nigeria Parkinson Disease Registry: Process, Profile, and Prospects of a Collaborative Project. Movement Disorders 10.1002/mds.28123. (In press).

Oswal, A; Gratwicke, J; Akram, H; Jahanshahi, M; Zaborszky, L; Brown, P; Hariz, M; ... Litvak, V; + view all (2020) Cortical connectivity of the nucleus basalis of Meynert in Parkinson's disease and Lewy body dementias. Brain 10.1093/brain/awaa411. (In press). Green open access
file

Ozyurt, MG; Bayir, E; Doğan, Ş; Öztürk, Ş; Şendemi̇r, A; (2020) Co-culture model of blood-brain barrier on electrospun nanofibers. Turkish Journal of Biology , 44 pp. 121-132. 10.3906/biy-1908-42. Green open access
file

P

Pacei, F; Iaccarino, L; Bugiardini, E; Dadone, V; Franceschini, LDT; Colombo, C; (2020) Wernicke’s encephalopathy, refeeding syndrome and wet beriberi after laparoscopic sleeve gastrectomy: the importance of thiamine evaluation. European Journal of Clinical Nutrition , 74 pp. 659-662. 10.1038/s41430-020-0583-x. Green open access
filefile

Paramasivam, A; Meena, AK; Venkatapathi, C; Pitceathly, RDS; Thangaraj, K; (2020) Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures. Journal of Molecular Neuroscience 10.1007/s12031-020-01595-8. (In press). Green open access
file

Patani, R; (2020) The FUS about SFPQ in FTLD spectrum disorders. Brain , 143 (8) pp. 2330-2332. 10.1093/brain/awaa207. Green open access
file

Patani, R; (2020) Human stem cell models of disease and the prognosis of academic medicine. Nature Medecine , 26 (4) , Article 449. 10.1038/s41591-020-0814-7. Green open access
file

Paterson, RW; Brown, RL; Benjamin, L; Nortley, R; Wiethoff, S; Bharucha, T; Jayaseelan, DL; ... UCL Queen Square National Hospital for Neurology and Neurosurger; + view all (2020) The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings. Brain 10.1093/brain/awaa240. (In press). Green open access
file

Pedrioli, G; Patani, R; Paganetti, P; (2020) Chloroquine, the Coronavirus Crisis, and Neurodegeneration: A Perspective. Frontiers in Neurology , 11 , Article 596528. 10.3389/fneur.2020.596528. Green open access
file

Pepper, J; Zrinzo, L; Hariz, M; (2020) Anterior capsulotomy for obsessive-compulsive disorder: a review of old and new literature. Journal of Neurosurgery , 133 (5) pp. 1595-1604. 10.3171/2019.4.JNS19275. Green open access
file

Perez-Gonzalez, M; Mendioroz, M; Badesso, S; Sucunza, D; Roldan, M; Espelosín, M; Ursua, S; ... Garcia-Osta, A; + view all (2020) PLA2 G4E, a candidate gene for resilience in Alzheimer's disease and a new target for dementia treatment. Progress in Neurobiology , 191 , Article 101818. 10.1016/j.pneurobio.2020.101818. Green open access
file

Pfyffer, D; Vallotton, K; Curt, A; Freund, P; (2020) Tissue bridges predict neuropathic pain emergence after spinal cord injury. Journal of Neurology, Neurosurgery and Psychiatry , 91 (10) pp. 1111-1117. 10.1136/jnnp-2020-323150. Green open access
file

Pfyffer, D; Wyss, PO; Huber, E; Curt, A; Henning, A; Freund, P; (2020) Metabolites of neuroinflammation relate to neuropathic pain after spinal cord injury. Neurology , 95 (7) e805-e814. 10.1212/WNL.0000000000010003. Green open access
file

Piot, I; Schweyer, K; Respondek, G; Stamelou, M; DescribePSP study group; ProPSP study group; MDS-endorsed PSP study group; ... Höglinger, GU; + view all (2020) The Progressive Supranuclear Palsy Clinical Deficits Scale. Movement Disorders 10.1002/mds.27964. (In press).

Pipis, M; Houlden, H; Reilly, MM; (2020) Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project. Medizinische Genetik , 32 (3) pp. 227-231. 10.1515/medgen-2020-2037. Green open access
file

Pirazzini, C; Azevedo, T; Baldelli, L; Bartoletti-Stella, A; Calandra-Buonaura, G; Molin, AD; Dimitri, GM; ... PROPAG-AGEING Consortium; + view all (2020) A Geroscience approach for Parkinson's Disease: conceptual framework and design of PROPAG-AGEING project. Mechanisms of Ageing and Development 10.1016/j.mad.2020.111426. (In press). Green open access
file

Pitceathly, RDS; Keshavan, N; Rahman, J; Rahman, S; (2020) Moving Towards Clinical Trials for Mitochondrial Diseases. Journal of Inherited Metabolic Disease 10.1002/jimd.12281. (In press). Green open access
file

Pizzamiglio, C; Lahiri, N; Nirmalananthan, N; Sood, B; Somalanka, S; Ostrowski, P; Phadke, R; ... Quinlivan, R; + view all (2020) First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Neuromuscular Disorders , 30 (7) pp. 566-571. 10.1016/j.nmd.2020.05.004. Green open access
file

Poole, OV; Horga, A; Hardy, SA; Bugiardini, E; Woodward, CE; Hargreaves, IP; Merve, A; ... Pitceathly, RDS; + view all (2020) Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant. Neurology Genetics , 6 (2) , Article e413. 10.1212/nxg.0000000000000413. (In press). Green open access
file

Postges, H; Jones, F; Lee, L; Holmes, S; James, N; Hanna, M; Reilly, M; (2020) Neuro-muscular Bridges: Outcome of the development phase of a self-management programme for people with neuromuscular diseases. Presented at: Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK. Green open access
filefile

Prudencio, M; Humphrey, J; Pickles, S; Brown, A-L; Hill, SE; Kachergus, J; Shi, J; ... Petrucelli, L; + view all (2020) Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. Journal of Clinical Investigation 10.1172/JCI139741. (In press). Green open access
file

Q

Qian, X; Harris, KD; Hauling, T; Nicoloutsopoulos, D; Muñoz-Manchado, AB; Skene, N; Hjerling-Leffler, J; (2020) Probabilistic cell typing enables fine mapping of closely related cell types in situ. Nature Methods , 17 pp. 101-106. 10.1038/s41592-019-0631-4. Green open access
file

R

Rawji, V; Latorre, A; Sharma, N; Rothwell, JC; Rocchi, L; (2020) On the Use of TMS to Investigate the Pathophysiology of Neurodegenerative Diseases. Frontiers in Neurology , 11 , Article 584664. 10.3389/fneur.2020.584664. Green open access
file

Rayon, T; Stamataki, D; Perez-Carrasco, R; Garcia-Perez, L; Barrington, C; Melchionda, M; Exelby, K; ... Briscoe, J; + view all (2020) Species-specific pace of development is associated with differences in protein stability. Science , 369 (6510) , Article eaba7667. 10.1126/science.aba7667. Green open access
file

Reilly, MM; Rossor, AM; (2020) Humans: the ultimate animal models. Journal of Neurology, Neurosurgery, and Psychiatry , 91 (11) pp. 1132-1136. 10.1136/jnnp-2020-323016. Green open access
file

Rodrigues-Manica, S; Cruz, E; Ramiro, S; Sousa, S; Aguiar, R; Sepriano, A; Machado, P; ... Pimentel-Santos, F; + view all (2020) The European Portuguese version of the ASAS Health Index for Patients with Spondyloarthritis: Measurement properties. Acta Reumatológica Portuguesa , 45 (1) pp. 26-33. Green open access
file

Rogers, J; Edward, C; Dominic, O; Thomas, P; Philip, M; Paolo, F-P; Michael, Z; ... Anthony, D; + view all (2020) Psychiatric and neuropsychiatric presentations associated with severe coronavirus infections: a systematic review and meta-analysis with comparison to the COVID-19 pandemic. The Lancet Psychiatry , 7 (7) pp. 611-627. 10.1016/S2215-0366(20)30203-0. Green open access
file

Rogers, JP; Chesney, E; Oliver, D; Pollak, TA; McGuire, P; Fusar-Poli, P; Zandi, MS; ... David, AS; + view all (2020) Psychiatric and neuropsychiatric syndromes and COVID-19 - Authors' reply. Lancet Psychiatry , 7 (8) pp. 664-665. 10.1016/S2215-0366(20)30304-7. Green open access
file

Roper, N; Brown, A-L; Wei, JS; Pack, S; Trindade, C; Kim, C; Restifo, O; ... Guha, U; + view all (2020) Clonal Evolution and Heterogeneity of Osimertinib Acquired Resistance Mechanisms in EGFR Mutant Lung Cancer. Cell Reports Medicine , 1 (1) , Article 100007. 10.1016/j.xcrm.2020.100007. Green open access
file

Roper, T; Harber, M; Jones, G; Pitceathly, RDS; Salama, AD; (2020) Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports. BMC Nephrology , 21 , Article 361. 10.1186/s12882-020-02002-5. Green open access
file

Rossor, AM; Shy, ME; Reilly, MM; (2020) Are we prepared for clinical trials in Charcot-Marie-Tooth disease? Brain Research , 1729 , Article 146625. 10.1016/j.brainres.2019.146625. Green open access
file

Rossor, AM; Sleigh, JN; Groves, M; Muntoni, F; Reilly, MM; Hoogenraad, CC; Schiavo, G; (2020) Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. Acta Neuropathol Commun , 8 , Article 34. 10.1186/s40478-020-00909-6. Green open access
file

Rundqvist, H; Veliça, P; Barbieri, L; Gameiro, PA; Bargiela, D; Gojkovic, M; Mijwel, S; ... Johnson, RS; + view all (2020) Cytotoxic T-cells mediate exercise-induced reductions in tumor growth. eLife , 9 , Article e59996. 10.7554/eLife.59996. Green open access
file

S

Safitri, D; Harris, M; Potter, H; Yan Yeung, H; Winfield, I; Kopanitsa, L; Svensson, F; ... Ladds, G; + view all (2020) Elevated intracellular cAMP concentration mediates growth suppression in glioma cells. Biochemical Pharmacology , 174 , Article 113823. 10.1016/j.bcp.2020.113823. Green open access
file

Scala, M; Chua, GL; Chin, CF; Alsaif, HS; Borovikov, A; Riazuddin, S; Riazuddin, S; ... Silver, DL; + view all (2020) Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. European Journal of Human Genetics , 28 pp. 1509-1519. 10.1038/s41431-020-0669-x. Green open access
file

Scala, M; Mojarrad, M; Riazuddin, S; Brigatti, KW; Ammous, Z; Cohen, JS; Hosny, H; ... Maroofian, R; + view all (2020) RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain 10.1093/brain/awaa070. (In press). Green open access
file

Scalco, RS; Quinlivan, RM; Nastasi, L; Jaffer, F; Hanna, MG; (2020) Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. Neuromuscular Disorders , 30 (2) pp. 173-179. 10.1016/j.nmd.2019.11.013. Green open access
file

Scalco, RS; Stemmerik, M; Løkken, N; Vissing, CR; Madsen, KL; Michalak, Z; Pattni, J; ... Quinlivan, R; + view all (2020) Results of an open label feasibility study of sodium valproate in people with McArdle disease. Neuromuscular Disorders , 30 (9) pp. 734-741. 10.1016/j.nmd.2020.04.009. Green open access
file

Schottlaender, LV; Abeti, R; Jaunmuktane, Z; Macmillan, C; Chelban, V; O'Callaghan, B; McKinley, J; ... Houlden, H; + view all (2020) Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. AJHG , 106 (3) pp. 412-421. 10.1016/j.ajhg.2020.02.007. Green open access
file

Schröder, S; Steinmetz, NA; Krumin, M; Pachitariu, M; Rizzi, M; Lagnado, L; Harris, KD; (2020) Arousal Modulates Retinal Output. Neuron 10.1016/j.neuron.2020.04.026. (In press). Green open access
file

Scott, DE; Rooney, TPC; Bayle, ED; Mirza, T; Willems, HMG; Clarke, JH; Andrews, SP; (2020) Systematic Investigation of the Permeability of Androgen Receptor PROTACs. ACS Medicinal Chemistry Letters , 11 (8) pp. 1539-1547. 10.1021/acsmedchemlett.0c00194. Green open access
file

Scriba, CK; Beecroft, SJ; Clayton, JS; Cortese, A; Sullivan, R; Yau, WY; Dominik, N; ... Ravenscroft, G; + view all (2020) A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. Brain , 143 (10) pp. 2904-2910. 10.1093/brain/awaa263. Green open access
file

Sebastián-Serrano, Á; Simón-García, A; Belmonte-Alfaro, A; Pose-Utrilla, J; Santos-Galindo, M; Del Puerto, A; García-Guerra, L; ... Iglesias, T; + view all (2020) Differential regulation of Kidins220 isoforms in Huntington's disease. Brain Pathology , 30 (1) pp. 120-136. 10.1111/bpa.12761. Green open access
file

Seif, M; David, G; Huber, E; Vallotton, K; Curt, A; Freund, P; (2020) Cervical Cord Neurodegeneration in Traumatic and Non-Traumatic Spinal Cord Injury. Journal of Neurotrauma , 37 (6) pp. 860-867. 10.1089/neu.2019.6694. Green open access
file

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
file

Sirotich, E; Dillingham, S; Grainger, R; Hausmann, JS; COVID-19 Global Rheumatology Alliance Steering Committee, .; (2020) Capturing Patient-Reported Outcomes During the COVID-19 Pandemic: Development of the COVID-19 Global Rheumatology Alliance Patient Experience Survey. Arthritis Care & Research , 72 (7) pp. 871-873. 10.1002/acr.24257. Green open access
file

Sleigh, J; Mech, A; Aktar, T; Zhang, Y; Schiavo, G; (2020) Altered sensory neuron development in CMT2D mice is site-specific and linked to increased GlyRS levels. Frontiers in Cellular Neuroscience , 14 , Article 232. 10.3389/fncel.2020.00232. Green open access
file

Sleigh, J; Mech, A; Schiavo, G; (2020) Developmental demands contribute to early neuromuscular degeneration in CMT2D mice. Cell Death and Disease , 11 , Article 564. 10.1038/s41419-020-02798-y. Green open access
file

Sleigh, J; Tosolini, A; Gordon, D; Devoy, A; Fratta, P; Fisher, E; Talbot, K; (2020) Mice carrying ALS mutant TDP-43, but not mutant FUS, display in vivo defects in axonal transport of signalling endosomes. Cell Reports , 30 (11) pp. 3655-3662. 10.1016/j.celrep.2020.02.078. Green open access
file

Sleigh, JN; (2020) Axonal Transport: The Delivery System Keeping Nerve Cells Alive. Frontiers for Young Minds , 8 , Article 12. 10.3389/frym.2020.00012. Green open access
filefile

Sleigh, JN; West, SJ; Schiavo, G; (2020) A video protocol for rapid dissection of mouse dorsal root ganglia from defined spinal levels. BMC Research Notes , 13 (1) , Article 302. 10.1186/s13104-020-05147-6. Green open access
file

Smethurst, P; Risse, E; Tyzack, GE; Mitchell, JS; Taha, DM; Chen, Y-R; Newcombe, J; ... Patani, R; + view all (2020) Distinct responses of neurons and astrocytes to TDP-43 proteinopathy in amyotrophic lateral sclerosis. Brain , 143 (2) pp. 430-440. 10.1093/brain/awz419. Green open access
file

Smith, CC; Brownstone, RM; (2020) Spinal motoneuron firing properties mature from rostral to caudal during postnatal development of the mouse. The Journal of Physiology , 598 (23) pp. 5467-5485. 10.1113/JP280274. Green open access
file

Sokratous, M; Lucia, S; Bourinaris, T; Marogianni, C; Arnaoutoglou, M; Patrikiou, E; Ralli, S; ... Xiromerisiou, G; + view all (2020) Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 21 (5-6) pp. 470-472. 10.1080/21678421.2020.1757115. Green open access
filefilefilefile

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
file

Steel, D; Zech, M; Zhao, C; Barwick, KE; Burke, D; Demailly, D; Kumar, KR; ... Winkelmann, J; + view all (2020) Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities. Annals of Neurology , 88 (5) pp. 867-877. 10.1002/ana.25879. Green open access
file

Strigaro, G; Barbero, P; Pizzamiglio, C; Magistrelli, L; Gori, B; Comi, C; Varrasi, C; (2020) Cortical visuomotor interactions in Freezing of Gait: A TMS approach. Neurophysiologie Clinique , 50 (3) pp. 205-212. 10.1016/j.neucli.2020.04.001. Green open access
file

Stuardo, N; Moya-Alvarado, G; Ramírez, C; Schiavo, G; Bronfman, FC; (2020) An Improved Protocol to Purify and Directly Mono-Biotinylate Recombinant BDNF in a Tube for Cellular Trafficking Studies in Neurons. Journal of Visualized Experiments , 161 , Article e61262. 10.3791/61262. Green open access
filefilefilefile

Stunnenberg, B; LoRusso, S; Arnold, WD; Barohn, RJ; Cannon, SC; Fontaine, B; Griggs, RC; ... Statland, JM; + view all (2020) Guidelines on clinical presentation and management of non-dystrophic myotonias. Muscle & Nerve , 62 (4) pp. 430-444. 10.1002/mus.26887. Green open access
file

Suetterlin, KJ; Rayan, D; Matthews, E; Hanna, MG; (2020) Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders. Expert Opinion on Orphan Drugs , 8 (2-3) pp. 43-49. 10.1080/21678707.2020.1739519. Green open access
file

Sullivan, R; Yau, WY; Chelban, V; Rossi, S; O'Connor, E; Wood, NW; Cortese, A; (2020) RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy. Movement Disorders 10.1002/mds.28074. (In press).

Surana, S; Villarroel-Campos, D; Lazo, OM; Moretto, E; Tosolini, AP; Rhymes, ER; Richter, S; ... Schiavo, G; + view all (2020) The evolution of the axonal transport toolkit. Traffic , 21 (1) pp. 13-33. 10.1111/tra.12710. Green open access
file

T

Tan, SV; Suetterlin, K; Männikkö, R; Matthews, E; Hanna, MG; Bostock, H; (2020) In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis. Clinical Neurophysiology , 131 (4) pp. 816-827. 10.1016/j.clinph.2019.12.414. Green open access
file

Tan, TY; Sedmik, J; Fitzgerald, MP; Halevy, RS; Keegan, LP; Helbig, I; Basel-Salmon, L; ... O'Connell, MA; + view all (2020) Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. The American Journal of Human Genetics (AJHG) , 106 (4) pp. 467-483. 10.1016/j.ajhg.2020.02.015. Green open access
file

Terenzio, M; Di Pizio, A; Rishal, I; Marvaldi, L; Di Matteo, P; Kawaguchi, R; Coppola, G; ... Fainzilber, M; + view all (2020) DYNLRB1 is essential for dynein mediated transport and neuronal survival. Neurobiology of Disease , 140 , Article 104816. 10.1016/j.nbd.2020.104816. Green open access
file

Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; ... Smith, KGC; + view all (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature , 583 pp. 90-95. 10.1038/s41586-020-2265-1. Green open access
file

The International Brain Laboratory; Aguillon-Rodriguez, V; Angelaki, D; Bayer, H; Bonacchi, N; Carandini, M; Cazettes, F; ... Zador, A; + view all (2020) Standardized and reproducible measurement of decision-making in mice. BioRxiv: Cold Spring Harbor, NY, USA. Green open access
file

Thi, TMN; Murakami, Y; Mobilio, S; Niceta, M; Zampino, G; Philippe, C; Moutton, S; ... Campeau, PM; + view all (2020) Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. The American Journal of Human Genetics , 106 (4) pp. 484-495. 10.1016/j.ajhg.2020.03.001. Green open access
file

Thomas, JR; LaCombe, J; Long, R; Lana-Elola, E; Watson-Scales, S; Wallace, JM; Fisher, EMC; ... Roper, RJ; + view all (2020) Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome. Bone , Article 115367. 10.1016/j.bone.2020.115367. (In press). Green open access
file

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
file

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
file

Tosolini, A; Sleigh, J; (2020) Intramuscular delivery of gene therapy for targeting the nervous system. Frontiers in Molecular Neuroscience , 13 , Article 129. 10.3389/fnmol.2020.00129. Green open access
file

Tremblay-Laganière, C; Kaiyrzhanov, R; Maroofian, R; Nguyen, TTM; Salayev, K; Chilton, IT; Chung, WK; ... Campeau, PM; + view all (2020) PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clinical Genetics 10.1111/cge.13877. (In press). Green open access
file

Trucco, F; Domingos, J; Tay, CG; Ridout, D; Maresh, K; Munot, P; Sarkozy, A; ... Muntoni, F; + view all (2020) Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study. Chest , 158 (4) pp. 1606-1616. 10.1016/j.chest.2020.04.043. Green open access
file

Tsuchiya, M; Nan, H; Koh, K; Ichinose, Y; Gao, L; Shimozono, K; Hata, T; ... Takiyama, Y; + view all (2020) RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia. Journal of Human Genetics , 65 pp. 1143-1147. 10.1038/s10038-020-0807-x. Green open access
filefilefilefilefile

Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; ... Ouwehand, WH; + view all (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature , 583 pp. 96-102. 10.1038/s41586-020-2434-2. Green open access
file

Tyzack, GE; Manferrari, G; Newcombe, J; Luscombe, NM; Luisier, R; Patani, R; (2020) Paraspeckle components NONO and PSPC1 are not mislocalized from motor neuron nuclei in sporadic ALS. Brain , 143 (8) , Article e66. 10.1093/brain/awaa205. Green open access
file

U

Ule, J; (2020) Open access, open data and peer review. Genome Biology , 21 (1) , Article 86. 10.1186/s13059-020-02005-3. Green open access
file

Ulivi, L; Kanber, B; Prados, F; Davagnanam, I; Merwick, A; Chan, E; Williams, F; ... Werring, DJ; + view all (2020) White matter integrity correlates with cognition and disease severity in Fabry disease. Brain , 143 (11) pp. 3331-3342. 10.1093/brain/awaa282. Green open access
file

V

Van den Ameele, J; Fuge, J; Pitceathly, RDS; Berry, S; McIntyre, Z; Hanna, MG; Lee, M; (2020) Chronic pain is common in mitochondrial disease. Neuromuscular Disorders 10.1016/j.nmd.2020.02.017. (In press). Green open access
file

Van Rossen, L; Chan, A; Gilbert, A; Gaffney, K; Harris, C; Machado, PM; Santos, LR; ... Keat, A; + view all (2020) Response to lower dose TNF inhibitors in axial spondyloarthritis; a real-world multicentre observational study. Rheumatology Advances in Practice , 4 (2) , Article rkaa015. 10.1093/rap/rkaa015. Green open access
file

Varatharaj, A; Thomas, N; Ellul, M; Davies, NWS; Pollak, T; Tenorio, EL; Sultan, M; ... Michael, B; + view all (2020) UK-Wide Surveillance of Neurological and Neuropsychiatric Complications of COVID-19: The First 153 Patients. SSRN: Amsterdam, Netherlands. Green open access
file

Varatharaj, A; Thomas, N; Ellul, MA; Davies, NWS; Pollak, TA; Tenorio, EL; Sultan, M; ... CoroNerve Study Group, .; + view all (2020) Neurological and neuropsychiatric complications of COVID-19 in 153 patients: a UK-wide surveillance study. The Lancet Psychiatry , 7 (10) pp. 875-882. 10.1016/S2215-0366(20)30287-X. Green open access
file

Vera, G; Sorlin, A; Delplancq, G; Lecoquierre, F; Brasseur-Daudruy, M; Petit, F; Smol, T; ... Guerrot, AM; + view all (2020) Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). European Journal of Medical Genetics , 63 (10) , Article 104004. 10.1016/j.ejmg.2020.104004. Green open access
file

Vila Cuenca, M; Marchi, G; Barqué, A; Esteban-Jurado, C; Marchetto, A; Giorgetti, A; Chelban, V; ... Sanchez, M; + view all (2020) Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. International Journal of Molecular Sciences , 21 (7) , Article 2374. 10.3390/ijms21072374. Green open access
file

Villarroel Campos, David; (2020) Regulation of intracellular traffic by TBK1 and its relevance to ALS. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

Vivekanandam, V; Bugiardini, E; Merve, A; Parton, M; Morrow, JM; Hanna, MG; Machado, PM; (2020) Differential Diagnoses of Inclusion Body Myositis. Neurologic Clinics , 38 (3) pp. 697-710. 10.1016/j.ncl.2020.03.014. Green open access
file

Vivekanandam, V; Mannikko, R; Matthews, E; Hanna, MG; (2020) Improving genetic diagnostics of skeletal muscle channelopathies. Expert Review of Molecular Diagnostics , 20 (7) pp. 725-736. 10.1080/14737159.2020.1782195. Green open access
file

Vivekanandam, V; Munot, P; Hanna, M; Matthews, E; (2020) Skeletal Muscle Channelopathies. Neurologic Clinics , 38 (3) pp. 481-491. 10.1016/j.ncl.2020.04.003. Green open access
file

W

Waddington, KE; Papadaki, A; Coelewij, L; Adriani, M; Nytrova, P; Kubala Havrdova, E; Fogdell-Hahn, A; ... Jury, EC; + view all (2020) Using Serum Metabolomics to Predict Development of Anti-drug Antibodies in Multiple Sclerosis Patients Treated With IFNβ. Frontiers In Immunology , 11 , Article 1527. 10.3389/fimmu.2020.01527. Green open access
file

Wagner, M; Levy, J; Jung-Klawitter, S; Bakhtiari, S; Monteiro, F; Maroofian, R; Bierhals, T; ... Opladen, T; + view all (2020) Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genetics in Medicine , 22 pp. 1061-1068. 10.1038/s41436-020-0768-7. Green open access
file

Wallace, AC; Talelli, P; Crook, L; Austin, D; Farrell, R; Hoad, D; O'Keeffe, A; ... Werring, D; + view all (2020) Exploratory randomized double-blind placebo controlled trial of botulinum therapy on grasp release after Stroke (PrOMBiS). Neurorehabilitation and Neural Repair , 34 (1) pp. 51-60. 10.1177/1545968319887682. Green open access
file

Wang, Y; Patani, R; (2020) Novel therapeutic targets for amyotrophic lateral sclerosis: ribonucleoproteins and cellular autonomy. Expert Opinion on Therapeutic Targets , 24 (10) pp. 971-984. 10.1080/14728222.2020.1805734. Green open access
file

Wang, H; Davison, M; Wang, K; Xia, T-H; Kramer, M; Call, K; Luo, J; ... Shy, ME; + view all (2020) Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A. Annals of Clinical and Translational Neurology , 7 (1) pp. 69-82. 10.1002/acn3.50965. Green open access
file

Wang, L; Li, Z; Sievert, D; Smith, DEC; Mendes, MI; Chen, DY; Stanley, V; ... Gleeson, JG; + view all (2020) Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nature Communications , 11 , Article 4038. 10.1038/s41467-020-17454-4. Green open access
file

Werring, DJ; Lynch, DS; (2020) Monogenic small vessel diseases — rare but still important. Nature Reviews Neurology , 16 pp. 407-408. 10.1038/s41582-020-0363-1. Green open access
file

Willems, H; De Cesco, S; Svensson, F; (2020) Computational Chemistry on a Budget – Supporting Drug Discovery with Limited Resources. Journal of Medicinal Chemistry , 63 (18) pp. 10158-10169. 10.1021/acs.jmedchem.9b02126. Green open access
file

Williams, T; Houlden, H; Murphy, E; John, N; Fox, NC; Schott, JM; Adams, M; ... Lynch, DS; + view all (2020) How to diagnose difficult white matter disorders. Practical Neurology 10.1136/practneurol-2020-002530. (In press). Green open access
file

Woldegebriel, R; Kvist, J; Andersson, N; Õunap, K; Reinson, K; Wojcik, MH; Bijlsma, EK; ... Tyynismaa, H; + view all (2020) Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Human Molecular Genetics , 29 (9) pp. 1426-1439. 10.1093/hmg/ddaa051. Green open access
file

Wu, H; Hariz, M; Visser-Vandewalle, V; Zrinzo, L; Coenen, VA; Sheth, SA; Bervoets, C; ... Nuttin, B; + view all (2020) Deep brain stimulation for refractory obsessive-compulsive disorder (OCD): emerging or established therapy? Molecular Psychiatry 10.1038/s41380-020-00933-x. (In press). Green open access
file

Y

Yau, WY; O'Connor, E; Chen, Z; Vandrovcova, J; Wood, NW; Houlden, H; (2020) GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor. Brain , 143 (7) e57. 10.1093/brain/awaa144. Green open access
file

Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; ... Houlden, H; + view all (2020) The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia. Brain , 143 (4) e25. 10.1093/brain/awaa043. Green open access
file

Yau, WY; Sullivan, R; Chen, Z; Lynch, DS; Vandrovcova, J; Wood, NW; Houlden, H; (2020) GGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy. Annals of Neurology , 88 (3) pp. 641-642. 10.1002/ana.25818. Green open access
file

Yau, WY; Vandrovcova, J; Sullivan, R; Chen, Z; Zecchinelli, A; Cilia, R; Stefano, D; ... Houlden, H; + view all (2020) Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders. Movement Disorders 10.1002/mds.28302. (In press). Green open access
file

Yildirim, MA; Topkara, B; Aydin, T; Paker, N; Soy, D; Coskun, E; Ones, K; ... Türker, KS; + view all (2020) Exploring the receptor origin of vibration-induced reflexes. Spinal Cord , 58 pp. 716-723. 10.1038/s41393-020-0419-5. Green open access
file

Yu, H; López, RIH; Steadman, D; Méndez-Sánchez, D; Higson, S; Cázares-Körner, A; Sheppard, TD; ... Dalby, PA; + view all (2020) Engineering transketolase to accept both unnatural donor and acceptor substrates and produce α‐hydroxyketones. The FEBS Journal , 287 (9) pp. 1758-1776. 10.1111/febs.15108. Green open access
file

Z

Zamanipoor Najafabadi, AH; Khan, DZ; Muskens, IS; Broekman, MLD; Dorward, NL; van Furth, WR; Marcus, HJ; (2020) Trends in cerebrospinal fluid leak rates following the extended endoscopic endonasal approach for anterior skull base meningioma: a meta-analysis over the last 20 years. Acta Neurochirurgica 10.1007/s00701-020-04641-x. (In press). Green open access
file

Zambon, AA; Pitt, M; Laurà, M; Polke, JM; Reilly, MM; Muntoni, F; (2020) A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia. Journal of the Peripheral Nervous System , 25 (3) pp. 303-307. 10.1111/jns.12386. Green open access
file

Zhang, J; Sood, H; Harrison, OT; Horner, B; Sharma, N; Budhdeo, S; (2020) Interoperability in NHS hospitals must be improved: the Care Quality Commission should be a key actor in this process. Journal of the Royal Society of Medicine , 113 (3) pp. 101-104. 10.1177/0141076819894664. Green open access
file

Ziff, OJ; Samra, M; Howard, JP; Bromage, DI; Ruschitzka, F; Francis, DP; Kotecha, D; (2020) Beta-blocker efficacy across different cardiovascular indications: an umbrella review and meta-analytic assessment. BMC Medicine , 18 , Article 103. 10.1186/s12916-020-01564-3. Green open access
file

Zrinzo, L; Akram, H; Hariz, M; (2020) Letter to the Editor. ClearPoint versus frame-based MRI-guided and MRI-verified deep brain stimulation. Journal of Neurosurgery , 133 (5) pp. 1624-1626. 10.3171/2019.10.JNS192845. Green open access
file

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Özyurt, MG; Topkara, B; İşak, B; Türker, KS; (2020) Amyotrophic lateral sclerosis weakens spinal recurrent inhibition and post-activation depression. Clinical Neurophysiology , 131 (12) pp. 2875-2886. 10.1016/j.clinph.2020.09.021. Green open access
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Özyurt, MG; Topkara, B; Şenocak, BS; Budan, AS; Yüce, MN; Türker, KS; (2020) Post-activation depression of primary afferents reevaluated in humans. Journal of Electromyography and Kinesiology , 54 , Article 102460. 10.1016/j.jelekin.2020.102460. Green open access
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