-
1
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba
-
Orozco Diaz G, Nodarse Fleites A, Cordovès Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology 1990;40:1369-1375.
-
(1990)
Neurology
, vol.40
, pp. 1369-1375
-
-
Orozco Diaz, G.1
Nodarse Fleites, A.2
Cordovès Sagaz, R.3
Auburger, G.4
-
2
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295-299.
-
(1993)
Nat Genet
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
-
3
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
4
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
-
5
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285-291.
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
6
-
-
0031035516
-
Machado-Joseph disease in four Chinese pedigrees: Molecular analysis of 15 patients including two juvenile cases and clinical correlations
-
Zhou YX, Takiyama Y, Igarashi S, et al. Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations. Neurology 1997;48:482-485.
-
(1997)
Neurology
, vol.48
, pp. 482-485
-
-
Zhou, Y.X.1
Takiyama, Y.2
Igarashi, S.3
-
7
-
-
9244229051
-
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
-
Goldfarb LG, Vasconcelos O, Platonov FA, et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 1996;39:500-506.
-
(1996)
Ann Neurol
, vol.39
, pp. 500-506
-
-
Goldfarb, L.G.1
Vasconcelos, O.2
Platonov, F.A.3
-
8
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
-
Cancel G, Dürr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-715.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 709-715
-
-
Cancel, G.1
Dürr, A.2
Didierjean, O.3
-
9
-
-
0030944114
-
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
-
Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-850.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 842-850
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, C.P.3
Treiman, L.J.4
Pulst, S.M.5
-
10
-
-
0031128793
-
SCA2 trinucleotide expansion in German SCA patients
-
Riess O, Laccone FA, Gispert S, et al. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1997;1: 59-64.
-
(1997)
Neurogenetics
, vol.1
, pp. 59-64
-
-
Riess, O.1
Laccone, F.A.2
Gispert, S.3
|