-
1
-
-
0032802780
-
Spinocerebellar ataxia type 2 in southern Italy: A clinical and molecular study of 30 families
-
(1999)
J Neurol
, vol.246
, pp. 467-471
-
-
Filla, A.1
De Michele, G.2
Santoro, L.3
Calabrese, O.4
Castaldo, I.5
Giuffrida, S.6
Restivo, D.7
Serlenga, L.8
Condorelli, D.F.9
Bonuccelli, U.10
Scala, R.11
Coppola, G.12
Caruso, G.13
Cocozza, S.14
-
4
-
-
0031906658
-
The role of the SCA2 trinucleotide 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
Davis, M.B.4
Veneziano, L.5
Mantuano, E.6
Federico, A.7
Plasmati, R.8
Frontali, M.9
Wood, N.W.10
-
5
-
-
6844252925
-
Analysis of the dynamic mutation in the SAC7 gene shows marked parental effects on CAG repeat transmission
-
(1998)
Hum Mol Genet
, vol.7
, pp. 525-532
-
-
Gouw, L.G.1
Castaneda, M.A.2
McKenna, C.K.3
Digre, K.B.4
Pulst, S.M.5
Perlman, S.6
Lee, M.S.7
Gomez, C.8
Fischbeck, K.9
Gagnon, D.10
Storey, E.11
Bird, T.12
Jeri, F.R.13
Ptacek, L.J.14
-
6
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
Gorelick-Feldman, D.A.4
Kleiderlein, J.J.5
Callahan, C.6
Kwak, N.G.7
Ingersoll-Ashworth, R.G.8
Sherr, M.9
Sumner, A.J.10
Sharp, A.H.11
Ananth, U.12
Seltzer, W.K.13
Boss, M.A.14
Vieria-Saeckar, A.M.15
Epplen, J.T.16
Riess, O.17
Ross, C.A.18
Margolis, R.L.19
-
7
-
-
0031442152
-
Spinocerebellar ataxia type 6: CAG repeat expansion in α1A voltage-dependent calcium channel gene and clinical variations in Japanese population
-
(1997)
Ann Neurol
, vol.42
, pp. 879-884
-
-
Ikeuchi, T.1
Takano, H.2
Koide, R.3
Horikawa, Y.4
Honma, Y.5
Onishi, Y.6
Igarashi, S.7
Tanaka, H.8
Nakao, N.9
Sahashi, K.10
Tsukagoshi, H.11
Inoue, K.12
Takahashi, H.13
Tsuji, S.14
-
9
-
-
19244384619
-
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients
-
(1997)
Arquivos de Neuro-Psiquiatria
, vol.55
, pp. 519-529
-
-
Lopes-Cendes, I.1
Teive, H.G.2
Calcagnotto, M.E.3
Da Costa, J.C.4
Cardoso, F.5
Viana, E.6
Maciel, J.A.7
Radvany, J.8
Arruda, W.O.9
Trevisol-Bittencourt, P.C.10
Rosa Neto, P.11
Silveira, I.12
Steiner, C.E.13
Pinto Junior, W.14
Santos, A.S.15
Correa Neto, Y.16
Werneck, L.C.17
Araujo, A.Q.18
Carakushansky, G.19
Mello, L.R.20
Jardim, L.B.21
Rouleau, G.A.22
more..
-
12
-
-
0031647246
-
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
-
(1998)
Neurology
, vol.51
, pp. 1666-1671
-
-
Moseley, M.L.1
Benzow, K.A.2
Schut, L.J.3
Bird, T.D.4
Gomez, C.M.5
Barkhaus, P.E.6
Blindauer, K.A.7
Labuda, M.8
Pandolfo, M.9
Koob, M.D.10
Ranum, L.P.W.11
-
13
-
-
0032522695
-
Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6
-
(1998)
J Neurol Sci
, vol.157
, pp. 52-59
-
-
Nagai, Y.1
Azuma, T.2
Funauchi, M.3
Fujita, M.4
Umi, M.5
Hirano, M.6
Matsubara, T.7
Ueno, S.8
-
14
-
-
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
-
-
Nakaoka, U.1
Suzuki, Y.2
Kawanami, T.3
Kurita, K.4
Shikama, Y.5
Honda, K.6
Abe, K.7
Nakajima, T.8
Kato, T.9
-
15
-
-
0032777834
-
Spinocerebellar ataxias in Spanish patients: Genetic analysis of familial and sporadic cases
-
(1999)
Hum Genet
, vol.104
, pp. 516-522
-
-
Pujana, M.A.1
Corral, J.2
Gratacos, M.3
Combarros, O.4
Berciano, J.5
Genis, D.6
Banchs, I.7
Estivill, X.8
Volpini, V.9
-
16
-
-
2642708379
-
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I
-
(1998)
Ann Neurol
, vol.43
, pp. 297-302
-
-
Rivaud-Pechoux, S.1
Darr, A.2
Gaymard, B.3
Cancel, G.4
Ploner, C.J.5
Agid, Y.6
Brice, A.7
Pierrot-Deseilligny, C.8
-
17
-
-
0034061759
-
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
-
(2000)
Hum Genet
, vol.106
, pp. 179-187
-
-
Saleem, Q.1
Choudhry, S.2
Mukerji, M.3
Bashyam, L.4
Padma, M.V.5
Chakravarthy, A.6
Maheshwari, M.C.7
Jain, S.8
Brahmachari, S.K.9
-
20
-
-
9344245162
-
Frequency of spinocerebellar ataxia type I, 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
Maciel, P.4
Gaspar, C.5
Coutinho, P.6
Botez, M.I.7
Teive, H.8
Arruda, W.9
Steiner, C.E.10
Pinto-Junior, W.11
Maciel, J.A.12
Jain, S.13
Sack, G.14
Andermann, E.15
Sudarsky, L.16
Rosenberg, R.17
MacLeod, P.18
Chitayat, D.19
Babul, R.20
Sequeiros, J.21
Rouleau, G.A.22
more..
-
21
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Durr, A.2
David, G.3
Didierjean, O.4
Cancel, G.5
Rivaud, S.6
Tourbah, A.7
Warter, J.-M.8
Agid, Y.9
Brice, A.10
-
23
-
-
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
Lorenzetti, D.4
Mawad, R.5
Stevanin, G.6
Didierjean, O.7
Durr, A.8
Oyake, M.9
Shimohata, T.10
Sasaki, R.11
Koide, R.12
Igarashi, S.13
Hayashi, S.14
Takiyama, Y.15
Nishizawa, M.16
Tanaka, H.17
Zoghbi, H.18
Brice, A.19
Tsuji, S.20
more..
-
24
-
-
0031262954
-
SCA1, SCA2, MJD/SCA3 (CAG)n mutation detection and analysis in patients with hereditary spinocerebellar ataxia from Chinese families
-
(1997)
Chin Med J
, vol.77
, pp. 819-822
-
-
Tang, B.1
Wang, D.2
Xia, J.3
-
27
-
-
0032539787
-
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia
-
(1998)
J Neurol Sci
, vol.156
, pp. 89-95
-
-
Yabe, I.1
Sasaki, H.2
Matsuura, T.3
Takada, A.4
Wakisaka, A.5
Suzuki, Y.6
Fukazawa, T.7
Hamada, T.8
Oda, T.9
Ohnishi, A.10
Tashiro, K.11
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