Measures in the first year of therapy predict the response to interferon β in MS J Río, J Castilló, A Rovira, M Tintoré, J Sastre-Garriga, A Horga, C Nos, ... Multiple Sclerosis Journal 15 (7), 848-853, 2009 | 298 | 2009 |
Brainstem lesions in clinically isolated syndromes M Tintore, A Rovira, G Arrambide, R Mitjana, J Río, C Auger, C Nos, ... Neurology 75 (21), 1933-1938, 2010 | 227 | 2010 |
Plasma exchange for acute attacks of CNS demyelination: predictors of improvement at 6 months S Llufriu, J Castillo, Y Blanco, L Ramio-Torrenta, J Rio, M Valles, ... Neurology 73 (12), 949-953, 2009 | 207 | 2009 |
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion A Cortese, S Tozza, WY Yau, S Rossi, SJ Beecroft, Z Jaunmuktane, ... Brain 143 (2), 480-490, 2020 | 180 | 2020 |
Clinical impact of early brain atrophy in clinically isolated syndromes F Pérez-Miralles, J Sastre-Garriga, M Tintoré, G Arrambide, C Nos, ... Multiple Sclerosis Journal 19 (14), 1878-1886, 2013 | 143 | 2013 |
Prevalence study of genetically defined skeletal muscle channelopathies in England A Horga, DL Raja Rayan, E Matthews, R Sud, D Fialho, SCM Durran, ... Neurology 80 (16), 1472-1475, 2013 | 143 | 2013 |
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study D Adams, M Polydefkis, A González-Duarte, J Wixner, AV Kristen, ... The Lancet Neurology 20 (1), 49-59, 2021 | 115 | 2021 |
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2 E Cottenie, A Kochanski, A Jordanova, B Bansagi, M Zimon, A Horga, ... The American Journal of Human Genetics 95 (5), 590-601, 2014 | 114 | 2014 |
Early brain pseudoatrophy while on natalizumab therapy is due to white matter volume changes A Vidal-Jordana, J Sastre-Garriga, F Pérez-Miralles, C Tur, M Tintoré, ... Multiple Sclerosis Journal 19 (9), 1175-1181, 2013 | 111 | 2013 |
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy YT Liu, M Laurá, J Hersheson, A Horga, Z Jaunmuktane, S Brandner, ... Neurology 83 (7), 612-619, 2014 | 102 | 2014 |
Do multimodal evoked potentials add information to MRI in clinically isolated syndromes? R Pelayo, X Montalban, T Minoves, D Moncho, J Rio, C Nos, C Tur, ... Multiple Sclerosis Journal 16 (1), 55-61, 2010 | 80 | 2010 |
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy A Manole, Z Jaunmuktane, I Hargreaves, MHR Ludtmann, V Salpietro, ... Brain 140 (11), 2820-2837, 2017 | 77 | 2017 |
Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis E Cantó, F Reverter, C Morcillo-Suárez, F Matesanz, O Fernández, ... Multiple Sclerosis Journal 18 (7), 983-990, 2012 | 72 | 2012 |
FTY720 (fingolimod) for relapsing multiple sclerosis A Horga, X Montalban Expert Review of Neurotherapeutics 8 (5), 699-714, 2008 | 72 | 2008 |
Cryptic amyloidogenic elements in the 3′ UTRs of neurofilament genes trigger axonal neuropathy AP Rebelo, AJ Abrams, E Cottenie, A Horga, M Gonzalez, DM Bis, ... The American Journal of Human Genetics 98 (4), 597-614, 2016 | 61 | 2016 |
Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry D Garcia-Azorin, MJA Abildúa, MEE Aguirre, SF Fernández, JCG Moncó, ... Journal of the neurological sciences 423, 117283, 2021 | 54 | 2021 |
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT PJ Tomaselli, AM Rossor, A Horga, Z Jaunmuktane, A Carr, P Saveri, ... Neurology 88 (15), 1445-1453, 2017 | 54 | 2017 |
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia A Horga, RDS Pitceathly, JC Blake, CE Woodward, P Zapater, C Fratter, ... Brain 137 (12), 3200-3212, 2014 | 50 | 2014 |
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease A Horga, M Laurà, Z Jaunmuktane, NU Jerath, MA Gonzalez, JM Polke, ... Journal of Neurology, Neurosurgery & Psychiatry 88 (7), 575-585, 2017 | 47 | 2017 |
De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 39 | 2020 |