| Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996 | 3267 | 1996 |
| Association between early-onset Parkinson's disease and mutations in the parkin gene CB Lücking, A Dürr, V Bonifati, J Vaughan, G De Michele, T Gasser, ... New England Journal of Medicine 342 (21), 1560-1567, 2000 | 1931 | 2000 |
| International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome P Trouillas, T Takayanagi, M Hallett, RD Currier, SH Subramony, ... Journal of the neurological sciences 145 (2), 205-211, 1997 | 1427 | 1997 |
| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, ... Cell 93 (6), 973-983, 1998 | 971 | 1998 |
| A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe N Abbas, CB Lücking, S Ricard, A Dürr, V Bonifati, G De Michele, ... Human molecular genetics 8 (4), 567-574, 1999 | 704 | 1999 |
| The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, ... American journal of human genetics 59 (3), 554, 1996 | 625 | 1996 |
| Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind … JF Howard, K Utsugisawa, M Benatar, H Murai, RJ Barohn, I Illa, S Jacob, ... The Lancet Neurology 16 (12), 976-986, 2017 | 617 | 2017 |
| Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 491 | 1999 |
| Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum G Stevanin, FM Santorelli, H Azzedine, P Coutinho, J Chomilier, ... Nature genetics 39 (3), 366-372, 2007 | 385 | 2007 |
| A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 323 | 2015 |
| Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms T Schmitz-Hubsch, M Coudert, P Bauer, P Giunti, C Globas, L Baliko, ... Neurology 71 (13), 982-989, 2008 | 302 | 2008 |
| Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study H Jacobi, ST du Montcel, P Bauer, P Giunti, A Cook, R Labrum, ... The Lancet Neurology 14 (11), 1101-1108, 2015 | 277 | 2015 |
| The Friedreich ataxia GAA triplet repeat: premutation and normal alleles L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, ... Human molecular genetics 6 (8), 1261-1266, 1997 | 263 | 1997 |
| Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy Multiple-System Atrophy Research Collaboration New England Journal of Medicine 369 (3), 233-244, 2013 | 259 | 2013 |
| The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study H Jacobi, P Bauer, P Giunti, R Labrum, MG Sweeney, P Charles, A Duerr, ... Neurology 77 (11), 1035-1041, 2011 | 236 | 2011 |
| Environmental and genetic risk factors in Parkinson's disease: a case–control study in southern Italy G De Michele, A Filla, G Volpe, V De Marco, A Gogliettino, G Ambrosio, ... Movement disorders: official journal of the Movement Disorder Society 11 (1 …, 1996 | 234 | 1996 |
| Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage A Suraweera, OJ Becherel, P Chen, N Rundle, R Woods, J Nakamura, ... The Journal of cell biology 177 (6), 969, 2007 | 216 | 2007 |
| Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data H Jacobi, K Reetz, ST du Montcel, P Bauer, C Mariotti, L Nanetti, ... The Lancet Neurology 12 (7), 650-658, 2013 | 208 | 2013 |
| Responsiveness of different rating instruments in spinocerebellar ataxia patients T Schmitz-Hubsch, R Fimmers, M Rakowicz, R Rola, E Zdzienicka, ... Neurology 74 (8), 678-684, 2010 | 201 | 2010 |
| Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis S Muppidi, K Utsugisawa, M Benatar, H Murai, RJ Barohn, I Illa, S Jacob, ... Muscle & nerve 60 (1), 14-24, 2019 | 200 | 2019 |
