-
1
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
3
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
5
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sampei, K.1
Takano, H.2
Igarashi, S.3
-
7
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
21
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Burk, K.1
Abele, M.2
Fetter, M.3
-
22
-
-
0032835166
-
Autosomal dominant cerebellar ataxia type I: Oculomotor abnormalities in families with SCA1, SCA2, and SCA3
-
(1999)
J Neurol
, vol.246
, pp. 789-797
-
-
Burk, K.1
Fetter, M.2
Abele, M.3
-
23
-
-
0033120421
-
Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6
-
(1999)
J Neurol Sci
, vol.164
, pp. 187-194
-
-
Nagaoka, U.1
Suzuki, Y.2
Kawanami, T.3
-
32
-
-
9344245162
-
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
-
(1996)
Neurology
, vol.46
, pp. 214-218
-
-
Silveira, I.1
Lopes-Cendes, I.2
Kish, S.3
-
33
-
-
0032231668
-
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1060-1066
-
-
Takano, H.1
Cancel, G.2
Ikeuchi, T.3
-
36
-
-
0032930168
-
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia
-
(1999)
J Neurol
, vol.246
, pp. 207-210
-
-
Dong, K.J.1
Myung, R.O.2
Seng, M.S.3
-
37
-
-
0031906658
-
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates
-
(1998)
Brain
, vol.121
, pp. 459-467
-
-
Giunti, P.1
Sabbadini, G.2
Sweeney, M.G.3
-
39
-
-
0028031125
-
Guidelines for the molecular genetics predictive test in Huntington's disease
-
(1994)
Neurology
, vol.44
, pp. 1533-1536
-
-
-
41
-
-
0033071176
-
Protein fate in neurodegenerative proteinopathies: Polyglutamine diseases join the (mis)fold
-
(1999)
Am J Hum Genet
, vol.64
, pp. 339-345
-
-
Paulson, H.L.1
-
54
-
-
0029961968
-
Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: A retrospective study on 119 patients
-
(1996)
Neurology
, vol.7
, pp. 1260-1264
-
-
De Michele, G.1
Perrone, F.2
Filla, A.3
-
55
-
-
0030904035
-
Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates
-
(1997)
Brain
, vol.120
, pp. 673-680
-
-
Lamont, P.J.1
Davis, M.B.2
Wood, N.W.3
-
59
-
-
0019782799
-
Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
69
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
(1997)
FEBS Lett
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
83
-
-
0033069503
-
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
-
(1999)
Am J Hum Genet
, vol.64
, pp. 586-593
-
-
Seri, M.1
Cusano, R.2
Forabosco, P.3
-
86
-
-
0033568545
-
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia
-
(1999)
Genomics
, vol.60
, pp. 309-319
-
-
Hazan, J.1
Davoine, C.S.2
Mavel, D.3
|