Second consensus statement on the diagnosis of multiple system atrophy S Gilman, GK Wenning, PA Low, DJ Brooks, CJ Mathias, JQ Trojanowski, ... Neurology 71 (9), 670-676, 2008 | 3266 | 2008 |
Scale for the assessment and rating of ataxia: development of a new clinical scale T Schmitz-Hubsch, ST Du Montcel, L Baliko, J Berciano, S Boesch, ... Neurology 66 (11), 1717-1720, 2006 | 1855 | 2006 |
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study DG Healy, M Falchi, SS O'Sullivan, V Bonifati, A Durr, S Bressman, ... The Lancet Neurology 7 (7), 583-590, 2008 | 1650 | 2008 |
Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data SJ Tabrizi, DR Langbehn, BR Leavitt, RAC Roos, A Durr, D Craufurd, ... The Lancet Neurology 8 (9), 791-801, 2009 | 1031 | 2009 |
Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data SJ Tabrizi, RI Scahill, G Owen, A Durr, BR Leavitt, RA Roos, B Borowsky, ... The Lancet Neurology 12 (7), 637-649, 2013 | 910 | 2013 |
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond A Durr The Lancet Neurology 9 (9), 885-894, 2010 | 759 | 2010 |
Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis SJ Tabrizi, RI Scahill, A Durr, RAC Roos, BR Leavitt, R Jones, ... The Lancet Neurology 10 (1), 31-42, 2011 | 650 | 2011 |
Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data SJ Tabrizi, R Reilmann, RAC Roos, A Durr, B Leavitt, G Owen, R Jones, ... The Lancet Neurology 11 (1), 42-53, 2012 | 584 | 2012 |
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 559 | 2014 |
Spinocerebellar ataxia 3 and Machado‐Joseph disease: clinical, molecular, and neuropathological features A Durr, G Stevanin, G Cancel, C Duyckaerts, N Abbas, O Didierjean, ... Annals of neurology 39 (4), 490-499, 1996 | 529 | 1996 |
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies MA Nalls, R Duran, G Lopez, M Kurzawa-Akanbi, IG McKeith, ... JAMA neurology 70 (6), 727-735, 2013 | 474 | 2013 |
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012 | 419 | 2012 |
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ... The American Journal of Human Genetics 98 (3), 500-513, 2016 | 412 | 2016 |
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1 S Gispert, R Twells, G Orozco, A Brice, J Weber, L Heredero, K Scheufler, ... Nature genetics 4 (3), 295-299, 1993 | 385 | 1993 |
How much phenotypic variation can be attributed to parkin genotype? E Lohmann, M Periquet, V Bonifati, NW Wood, G De Michele, AM Bonnet, ... Annals of neurology 54 (2), 176-185, 2003 | 384 | 2003 |
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 | 379 | 2007 |
Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis LM Byrne, FB Rodrigues, K Blennow, A Durr, BR Leavitt, RAC Roos, ... The Lancet Neurology 16 (8), 601-609, 2017 | 337 | 2017 |
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia N Fonknechten, D Mavel, P Byrne, CS Davoine, C Cruaud, D Boentsch, ... Human molecular genetics 9 (4), 637-644, 2000 | 335 | 2000 |
N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force C Marras, A Lang, BP van de Warrenburg, CM Sue, SJ Tabrizi, L Bertram, ... Movement Disorders 31 (4), 436-457, 2016 | 314 | 2016 |
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 | 298 | 2008 |