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Alexandra DURR
Alexandra DURR
Sorbonne université
Dirección de correo verificada de icm-institute.org
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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
32662008
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
18552006
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
16502008
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
10312009
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
9102013
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
A Durr
The Lancet Neurology 9 (9), 885-894, 2010
7592010
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
6502011
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
5842012
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
5592014
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
5291996
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
4742013
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
4192012
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
4122016
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
3851993
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
3842003
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
3792007
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
3372017
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
3352000
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
3142016
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
2982008
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20