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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
32161996
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
19112000
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
14021997
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
9671998
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
6971999
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
6141996
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
5682017
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
4791999
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
3782007
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
3082015
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
2972008
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
2602015
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
2581997
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
2542013
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
2331996
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
2232011
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), 969-979, 2007
2062007
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
2042013
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
1952010
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
S Tezenas du Montcel, A Durr, P Bauer, KP Figueroa, Y Ichikawa, ...
Brain 137 (9), 2444-2455, 2014
1842014
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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