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Article

100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; ... Caulfield, M; + view all (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine , 385 (20) pp. 1868-1880. 10.1056/NEJMoa2035790. Green open access
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Abramzon, Y; Dewan, R; Cortese, A; Resnick, S; Ferrucci, L; Houlden, H; Traynor, BJ; (2021) Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis. Journal of the Neurological Sciences , 430 , Article 118061. 10.1016/j.jns.2021.118061. Green open access
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Abrol, E; Coutinho, E; Chou, M; Hart, M; Vincent, A; Howard, R; Zandi, MS; (2021) Psychosis in systemic lupus erythematosus (SLE): 40-year experience of a specialist centre. Rheumatology , 60 (12) pp. 5620-5629. 10.1093/rheumatology/keab160. Green open access
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Adams, D; Polydefkis, M; González-Duarte, A; Wixner, J; Kristen, AV; Schmidt, HH; Berk, JL; ... patisiran Global OLE study group; + view all (2021) Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. The Lancet Neurology , 20 (1) pp. 49-59. 10.1016/S1474-4422(20)30368-9. Green open access
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Aghaizu, ND; Warre-Cornish, KM; Robinson, MR; Ali, RR; Pearson, RA; (2021) Tracking neuronal motility in live murine retinal explants. STAR Protocols , 2 (4) , Article 101008. 10.1016/j.xpro.2021.101008. Green open access
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Aghaizu, ND; Warre-Cornish, KM; Robinson, MR; Waldron, PV; Maswood, RN; Smith, AJ; Ali, RR; (2021) Repeated nuclear translocations underlie photoreceptor positioning and lamination of the outer nuclear layer in the mammalian retina. Cell Reports , 36 (5) , Article 109461. 10.1016/j.celrep.2021.109461. Green open access
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Agostini, F; Zagalak, J; Attig, J; Ule, J; Luscombe, NM; (2021) Intergenic RNA mainly derives from nascent transcripts of known genes. Genome Biology , 22 (1) , Article 136. 10.1186/s13059-021-02350-x. Green open access
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Almarzouki, A; Wilson, D; Ambler, G; Shakeshaft, C; Cohen, H; Yousry, T; Al-Shahi Salman, R; ... Werring, DJ; + view all (2021) Publisher Correction: Sensitivity and specificity of blood-fluid levels for oral anticoagulant-associated intracerebral haemorrhage. Scientific Reports , 11 (1) , Article 9485. 10.1038/s41598-021-88890-5. Green open access
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Alunno, A; Najm, A; Machado, PM; Bertheussen, H; Burmester, GR; Carubbi, F; De Marco, G; ... Mariette, X; + view all (2021) EULAR points to consider on pathophysiology and use of immunomodulatory therapies in COVID-19. Annals of the Rheumatic Diseases , 80 , Article 6. 10.1136/annrheumdis-2020-219724. Green open access
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Alunno, A; Najm, A; Mariette, X; De Marco, G; Emmel, J; Mason, L; McGonagle, DG; (2021) Immunomodulatory therapies for the treatment of SARS-CoV-2 infection: an update of the systematic literature review to inform EULAR points to consider. RMD Open , 7 (3) , Article e001899. 10.1136/rmdopen-2021-001899. Green open access
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Alunno, A; Rivellese, F; Lauper, K; Aletaha, D; Buch, MH; Gossec, L; Mandl, P; ... Sepriano, A; + view all (2021) EMerging EULAR NETwork (EMEUNET): a remarkable foundation for the future. RMD Open , 7 (3) , Article e001962. 10.1136/rmdopen-2021-001962. Green open access
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Alunno, A; Najm, A; Mariette, X; De Marco, G; Emmel, J; Mason, L; McGonagle, DG; (2021) Immunomodulatory therapies for SARS-CoV-2 infection: a systematic literature review to inform EULAR points to consider. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2020-219725. (In press). Green open access
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Amato, AA; Hanna, MG; Machado, PM; Badrising, UA; Chinoy, H; Benveniste, O; Karanam, AK; ... RESILIENT Study Extension Group; + view all (2021) Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-Term Extension of RESILIENT. Neurology , 96 (12) e1595-e1607. 10.1212/WNL.0000000000011626. Green open access
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Andlauer, TFM; Guzman-Parra, J; Streit, F; Strohmaier, J; González, MJ; Gil Flores, S; Cabaleiro Fabeiro, FJ; ... Rietschel, M; + view all (2021) Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders. Molecular Psychiatry , 26 pp. 1286-1298. 10.1038/s41380-019-0558-2. Green open access
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Andreassi, C; Luisier, R; Crerar, H; Darsinou, M; Blokzijl-Franke, S; Lenn, T; Luscombe, NM; ... Riccio, A; + view all (2021) Cytoplasmic cleavage of IMPA1 3' UTR is necessary for maintaining axon integrity. Cell Reports , 34 (8) , Article 108778. 10.1016/j.celrep.2021.108778. Green open access
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Appelhof, B; Wagner, M; Hoefele, J; Heinze, A; Roser, T; Koch-Hogrebe, M; Roosendaal, SD; ... Jamra, RA; + view all (2021) Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European Journal of Human Genetics , 29-30 pp. 411-421. 10.1038/s41431-020-00749-x. Green open access
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Au, L; Hatipoglu, E; Robert de Massy, M; Litchfield, K; Beattie, G; Rowan, A; Schnidrig, D; ... TRACERx Renal Consortium; + view all (2021) Determinants of anti-PD-1 response and resistance in clear cell renal cell carcinoma. Cancer Cell , 39 pp. 1497-1518. 10.1016/j.ccell.2021.10.001. Green open access
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Averdunk, L; Sticht, H; Surowy, H; Lüdecke, HJ; Koch-Hogrebe, M; Alsaif, HS; Kahrizi, K; ... Wieczorek, D; + view all (2021) The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. Journal of Molecular Medicine 10.1007/s00109-021-02124-9. (In press). Green open access
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Bahena, P; Daftarian, N; Maroofian, R; Linares, P; Villalobos, D; Mirrahimi, M; Rad, A; ... Haaf, T; + view all (2021) Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Human Genetics 10.1007/s00439-021-02303-1. (In press). Green open access
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Baldelli, L; Schade, S; Jesús, S; Schreglmann, SR; Sambati, L; Gómez-Garre, P; Halsband, C; ... Provini, F; + view all (2021) Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients. npj Parkinson's Disease , 7 , Article 78. 10.1038/s41531-021-00219-1. Green open access
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Bampton, A; Gatt, A; Humphrey, J; Cappelli, S; Bhattacharya, D; Foti, S; Brown, A-L; ... Lashley, T; + view all (2021) HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing. Acta Neuropathologica 10.1007/s00401-021-02340-0. (In press). Green open access
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Bandyopadhyay, S; Khan, DZ; Marcus, HJ; Schroeder, BE; Patel, V; O’Donnell, A; Ahmed, S; ... Youssef, M; + view all (2021) CSF Rhinorrhea After Endonasal Intervention to the Skull Base (CRANIAL) — Part 2: Impact of COVID-19. World Neurosurgery , 149 e1090-e1097. 10.1016/j.wneu.2020.12.169. Green open access
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Baty, K; Farrugia, ME; Hopton, S; Falkous, G; Schaefer, AM; Stewart, W; Willison, HJ; ... Ng, YS; + view all (2021) A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. Neuromuscular Disorders , 31 (11) pp. 1186-1193. 10.1016/j.nmd.2021.05.014. Green open access
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Bayle, ED; Svensson, F; Atkinson, BN; Steadman, D; Willis, NJ; Woodward, HL; Whiting, P; ... Fish, PV; + view all (2021) Carboxylesterase Notum Is a Druggable Target to Modulate Wnt Signaling. Journal of Medicinal Chemistry , 64 (8) pp. 4289-4311. 10.1021/acs.jmedchem.0c01974. Green open access
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Benjamin, LA; Paterson, RW; Moll, R; Pericleous, C; Brown, R; Mehta, PR; Athauda, D; ... Efthymiou, M; + view all (2021) Antiphospholipid antibodies and neurological manifestations in acute COVID-19: A single-centre cross-sectional study. EClinicalMedicine , Article 101070. 10.1016/j.eclinm.2021.101070. (In press). Green open access
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Bertrand, HGMJ; Middleton, JA; Baker, SN; Glover, I; Flecknell, PA; (2021) Influence of alphaxalone on motor somatosensory evoked potentials in a female rhesus macaque (Macaca mulatta). Laboratory Animals 10.1177/0023677221990706. (In press). Green open access
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Best, JG; Ambler, G; Wilson, D; Lee, K-J; Lim, J-S; Shiozawa, M; Koga, M; ... Werring, DJ; + view all (2021) Development of imaging-based risk scores for prediction of intracranial haemorrhage and ischaemic stroke in patients taking antithrombotic therapy after ischaemic stroke or transient ischaemic attack: a pooled analysis of individual patient data from cohort studies. The Lancet Neurology , 20 (4) pp. 294-303. 10.1016/S1474-4422(21)00024-7. Green open access
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Bibi, F; Ullah, A; Bourinaris, T; Efthymiou, S; Kriouile, Y; Sultan, T; Haider, S; ... Kaukab Raja, G; + view all (2021) Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco. Klinische Pädiatrie , 233 (5) pp. 226-230. 10.1055/a-1371-1561. Green open access
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Bindoff, LA; Brown, DA; Gorman, GS; Karaa, A; Keshavan, N; Lamperti, C; Mancuso, M; ... De Vries, MC; + view all (2021) Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome". Journal of Inherited Metabolic Disease , 44 (1) pp. 6-7. 10.1002/jimd.12329. Green open access
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Birsa, N; Ule, AM; Garone, MG; Tsang, B; Mattedi, F; Chong, PA; Humphrey, J; ... Fratta, P; + view all (2021) FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation. Science Advances , 7 (30) , Article eabf8660. 10.1126/sciadv.abf8660. Green open access
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Blackstone, C; Elwood, F; Plun-Favreau, H; Lewis, PA; (2021) Vesicle trafficking and pathways to neurodegeneration. Molecular Neurodegeneration , 16 (1) , Article 56. 10.1186/s13024-021-00480-1. Green open access
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Blauwendraat, C; Iwaki, H; Makarious, MB; Bandres-Ciga, S; Leonard, H; Grenn, FP; Lake, J; ... Lynch, TL; + view all (2021) Investigation of Autosomal Genetic Sex Differences in Parkinson's disease. Annals of Neurology , 90 (1) pp. 35-42. 10.1002/ana.26090. Green open access
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Borg, A; Hill, CS; Nurboja, B; Critchley, G; Choi, D; (2021) A randomized controlled trial of the X-Stop interspinous distractor device versus laminectomy for lumbar spinal stenosis with 2-year quality-of-life and cost-effectiveness outcomes. Journal of Neurosurgery , 34 (4) pp. 544-552. 10.3171/2020.7.SPINE20880. Green open access
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Bosch, P; Carubbi, F; Scirè, CA; Baraliakos, X; Falzon, L; Dejaco, C; Machado, PM; (2021) Value of imaging to guide interventional procedures in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider. RMD Open , 7 (3) , Article e001864. 10.1136/rmdopen-2021-001864. Green open access
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Bourinaris, T; Athanasiou, A; Efthymiou, S; Wiethoff, S; Salpietro, V; Houlden, H; (2021) Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders. European Journal of Human Genetics 10.1038/s41431-021-00866-1. (In press). Green open access
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Breza, M; Hirst, J; Chelban, V; Banneau, G; Tissier, L; Kol, B; Bourinaris, T; ... Stevanin, G; + view all (2021) Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease. Movement Disorders , 36 (4) pp. 1034-1038. 10.1002/mds.28487.

Bugeon, Stephane; Haubold, Clara; Ryzynski, Alexandre; Cremer, Harold; Platel, Jean-Claude; (2021) Intrinsic Neuronal Activity during Migration Controls the Recruitment of Specific Interneuron Subtypes in the Postnatal Mouse Olfactory Bulb. The Journal of Neuroscience , 41 (12) pp. 2610-2644. 10.1523/JNEUROSCI.1960-20.2021. Green open access
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Burchill, E; Lymberopoulos, E; Menozzi, E; Budhdeo, S; McIlroy, JR; Macnaughtan, J; Sharma, N; (2021) The Unique Impact of COVID-19 on Human Gut Microbiome Research. Frontiers in Medicine , 8 , Article 652464. 10.3389/fmed.2021.652464. Green open access
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Caetano, AP; Mascarenhas, VV; Machado, PM; (2021) Axial Spondyloarthritis: Mimics and Pitfalls of Imaging Assessment. Frontiers in Medicine , 8 , Article 658538. 10.3389/fmed.2021.658538. Green open access
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Carandini, M; Steinmetz, N; Cagatay, A; Lebedeva, A; Okun, M; Pachitariu, M; Dudman, J; ... Harris, TD; + view all (2021) Neuropixels 2.0: A miniaturized high-density probe for stable, long-term brain recordings. Science , 372 (6539) , Article eabf4588. 10.1126/science.abf4588. Green open access
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Carpenter, JC; Männikkö, R; Heffner, C; Heneine, J; Sampedro-Castañeda, M; Lignani, G; Schorge, S; (2021) Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. Epilepsia 10.1111/epi.16867. Green open access
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Carubbi, F; Bosch, P; Machado, PM; Scire, CA; Alunno, A; Proft, F; Baraliakos, X; (2021) Current Practice of Imaging-Guided Interventional Procedures in Rheumatic and Musculoskeletal Diseases: Results of a Multinational Multidisciplinary Survey. Frontiers in Medicine , 8 , Article 779975. 10.3389/fmed.2021.779975. Green open access
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Casto, C; Dipasquale, V; Ceravolo, I; Gambadauro, A; Aliberto, E; Galletta, K; Granata, F; ... Chimenz, R; + view all (2021) Prominent and regressive brain developmental disorders associated with nance-horan syndrome. Brain Sciences , 11 (9) , Article 1150. 10.3390/brainsci11091150. Green open access
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Cechin, Laura; Gasmelseed, Jihad; Bashford, James; Rowczenio, Dorota; Reilly, Mary M; Gillmore, Julian D; Coutinho, Ester; (2021) Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis. Neurology: Clinical Practice , 11 (5) e757-e759. 10.1212/CPJ.0000000000001054. Green open access
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Chakraborty, Kasturi; Anees, Palapuravan; Surana, Sunaina; Martin, Simona; Aburas, Jihad; Moutel, Sandrine; Perez, Franck; ... Krishnan, Yamuna; + view all (2021) Tissue-specific targeting of DNA nanodevices in a multicellular living organism. eLife , 10 , Article e67830. 10.7554/eLife.67830. Green open access
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Chan, YM; Wong, Y; Khalid, N; Wastling, S; Flores-Martin, A; Frank, L-A; Koohi N, N; ... Kaski, D; + view all (2021) Prevalence of acute dizziness and vertigo in cortical stroke. European Journal of Neurology , 28 (9) pp. 3177-3181. 10.1111/ene.14964. Green open access
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Chandler, RJ; Cogo, S; Lewis, PA; Kevei, E; (2021) Modelling the functional genomics of Parkinson’s disease in Caenorhabditis elegans: LRRK2 and beyond. Bioscience Reports , 41 (9) , Article BSR20203672. 10.1042/bsr20203672. Green open access
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Chelban, V; Breza, M; Szaruga, M; Vandrovcova, J; Murphy, D; Lee, C-J; Alikhwan, S; ... Koutsis, G; + view all (2021) Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease. Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring , 13 (1) , Article e12186. 10.1002/dad2.12186. Green open access
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Chen, Z; Maroofian, R; Başak, AN; Shingavi, L; Karakaya, M; Efthymiou, S; Gustavsson, EK; ... Sarraf, P; + view all (2021) Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. European Journal of Neurology , 28 (4) pp. 1344-1355. 10.1111/ene.14649. Green open access
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Chen, Z; Zhang, D; Reynolds, RH; Gustavsson, EK; García-Ruiz, S; D'Sa, K; Fairbrother-Browne, A; ... Ryten, M; + view all (2021) Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications , 12 , Article 2076. 10.1038/s41467-021-22262-5. Green open access
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Chopek, JW; Zhang, Y; Brownstone, RM; (2021) Intrinsic brainstem circuits comprised of Chx10-expressing neurons contribute to reticulospinal output in mice. Journal of Neurophysiology , 126 (6) pp. 1978-1990. 10.1152/jn.00322.2021. Green open access
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Chung, C-Y; Singh, K; Kotiadis, VN; Valdebenito, GE; Ahn, JH; Topley, E; Tan, J; ... Duchen, MR; + view all (2021) Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation. Nature Communications , 12 (1) , Article 6409. 10.1038/s41467-021-26746-2. Green open access
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Clark, AJ; Kugathasan, U; Baskozos, G; Priestman, DA; Fugger, N; Lone, MA; Othman, A; ... Bennett, DL; + view all (2021) An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions. Cell Reports Medicine , 2 (7) , Article 10034. 10.1016/j.xcrm.2021.100345. Green open access
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Clayton, SA; Daley, KK; MacDonald, L; Fernandez-Vizarra, E; Bottegoni, G; O'Neil, JD; Major, T; ... Clark, AR; + view all (2021) Inflammation causes remodeling of mitochondrial cytochrome c oxidase mediated by the bifunctional gene C15orf48. Science Advances , 7 (50) , Article eabl5182. 10.1126/sciadv.abl5182. Green open access
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Cleverley, K; Lee, WC; Mumford, P; Collins, T; Rickman, M; Cunningham, TJ; Cleak, J; ... Fisher, EMC; + view all (2021) A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits. Mammalian Genome 10.1007/s00335-021-09864-6. (In press). Green open access
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Collorone, S; Kanber, B; Hashem, L; Cawley, N; Prados, F; Davagnanam, I; Barkhof, F; ... Toosy, A; + view all (2021) Visual Function and Brief Cognitive Assessment for Multiple Sclerosis (BICAMS) in Optic Neuritis Clinically Isolated Syndrome Patients. Journal of Neuro-Ophthalmology , 42 (1) e22-e31. 10.1097/WNO.0000000000001280. Green open access
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Conforti, FL; Renton, AE; Houlden, H; (2021) Editorial: Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. Frontiers in Neuroscience , 15 , Article 680185. 10.3389/fnins.2021.680185. Green open access
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Cortese, A; Curro', R; Vegezzi, E; Yau, WY; Houlden, H; Reilly, MM; (2021) Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects. Practical Neurology 10.1136/practneurol-2020-002822. (In press). Green open access
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Cosentino, G; Di Stefano, V; Lo Presti, R; Montana, M; Todisco, M; Gastaldi, M; Cortese, A; ... Brighina, F; + view all (2021) Expression pattern of matrix metalloproteinases-2 and -9 and their tissue inhibitors in patients with chronic inflammatory demyelinating polyneuropathy. Neurological Sciences , 42 (10) pp. 4297-4300. 10.1007/s10072-021-05314-y. Green open access
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Crow, Yanick J; Marshall, Heather; Rice, Gillian; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; ... Badrock, Andrew P; + view all (2021) Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. American Journal of Medical Genetics Part A , 185 (1) pp. 15-25. 10.1002/ajmg.a.61907. Green open access
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Cuellar-Partida, G; Tung, JY; Eriksson, N; Albrecht, E; Aliev, F; Andreassen, OA; Barroso, I; ... Medland, SE; + view all (2021) Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour , 5 (1) pp. 59-70. 10.1038/s41562-020-00956-y. Green open access
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Currò, R; Salvalaggio, A; Tozza, S; Gemelli, C; Dominik, N; Galassi Deforie, V; Magrinelli, F; ... Cortese, A; + view all (2021) RFC1 expansions are a common cause of idiopathic sensory neuropathy. Brain 10.1093/brain/awab072. (In press). Green open access
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D'Antona, L; Asif, H; Craven, C; Mchugh, J; Vassiliou, A; Thorne, L; Matharu, M; ... Toma, A; + view all (2021) Brain MRI and ophthalmic biomarkers of intracranial pressure. Neurology , 96 (22) e2714-e2723. 10.1212/WNL.0000000000012023. Green open access
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D'Antona, L; Jaime Merchan, MA; Vassiliou, A; Watkins, LD; Davagnanam, I; Toma, AK; Matharu, MS; (2021) Clinical Presentation, Investigation Findings, and Treatment Outcomes of Spontaneous Intracranial Hypotension Syndrome: A Systematic Review and Meta-analysis. JAMA Neurology , 78 (3) pp. 329-337. 10.1001/jamaneurol.2020.4799. Green open access
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Dayal, V; Rajabian, A; Jahanshahi, M; Aviles-Olmos, I; Cowie, D; Peters, A; Day, B; ... Foltynie, T; + view all (2021) Pedunculopontine Nucleus Deep Brain Stimulation for Parkinsonian Disorders: A Case Series. Stereotactic and Functional Neurosurgery , 99 (4) pp. 287-294. 10.1159/000511978. Green open access
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Dejaco, C; Machado, PM; Carubbi, F; Bosch, P; Terslev, L; Tamborrini, G; Sconfienza, LM; ... Baraliakos, X; + view all (2021) EULAR Points to Consider for the use of imaging to guide interventional procedures in patients with rheumatic and musculoskeletal diseases (RMDs). Annals of the Rheumatic Diseases 10.1136/annrheumdis-2021-221261. (In press). Green open access
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Del Puerto, A; Pose-Utrilla, J; Simón-García, A; López-Menéndez, C; Jiménez, AJ; Porlan, E; Pajuelo, LSM; ... Iglesias, T; + view all (2021) Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation. Molecular Psychiatry 10.1038/s41380-021-01127-9. (In press). Green open access
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Devkota, K; Schapira, M; Perveen, S; Khalili Yazdi, A; Li, F; Chau, I; Ghiabi, P; ... Vedadi, M; + view all (2021) Probing the SAM Binding Site of SARS-CoV-2 Nsp14 In Vitro Using SAM Competitive Inhibitors Guides Developing Selective Bisubstrate Inhibitors. SLAS DISCOVERY: Advancing the Science of Drug Discovery 10.1177/24725552211026261. (In press). Green open access
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Devoy, A; Price, G; De Giorgio, F; Bunton-Stasyshyn, R; Thompson, D; Gasco, S; Allan, A; ... Cunningham, TJ; + view all (2021) Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models. iScience , 24 (12) , Article 103463. 10.1016/j.isci.2021.103463. Green open access
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Diamanti, EM; Reddy, CB; Schröder, S; Muzzu, T; Harris, KD; Saleem, AB; Carandini, M; (2021) Spatial modulation of visual responses arises in cortex with active navigation. Elife , 10 , Article e63705. 10.7554/eLife.63705. Green open access
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Dierssen, M; Herault, Y; Helguera, P; Martinez de Lagran, M; Vazquez, A; Christian, B; Carmona-Iragui, M; ... Bhattacharyya, A; + view all (2021) Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society. Molecular Syndromology 10.1159/000514437. (In press). Green open access
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Du, H; Wilson, D; Ambler, G; Banerjee, G; Shakeshaft, C; Cohen, H; Yousry, T; ... Clinical Relevance of Microbleeds in Stroke (CROMIS-2) Collabora, .; + view all (2021) Small Vessel Disease and Ischemic Stroke Risk During Anticoagulation for Atrial Fibrillation After Cerebral Ischemia. Stroke , 52 (1) pp. 91-99. 10.1161/STROKEAHA.120.029474. Green open access
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Dworschak, GC; Punetha, J; Kalanithy, JC; Mingardo, E; Erdem, HB; Akdemir, ZC; Karaca, E; ... Reutter, H; + view all (2021) Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genetics in Medicine 10.1038/s41436-021-01196-9. Green open access
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Efthymiou, Stephanie; Dutra-Clarke, Marina; Maroofian, Reza; Kaiyrzhanov, Rauan; Scala, Marcello; Reza Alvi, Javeria; Sultan, Tipu; ... Houlden, Henry; + view all (2021) Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia , 62 (2) e35-e41. 10.1111/epi.16801. Green open access
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Efthymiou, S; Herman, I; Rahman, F; Anwar, N; Maroofian, R; Yip, J; Mitani, T; ... Houlden, H; + view all (2021) Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American Journal of Medical Genetics Part A , 185 (7) pp. 2241-2249. 10.1002/ajmg.a.62221. Green open access
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