-
1
-
-
0037677603
-
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
-
Chung MY, Lu YC, Cheng NC, Soong BW (2003) A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain 126:1293-1299
-
(2003)
Brain
, vol.126
, pp. 1293-1299
-
-
Chung, M.Y.1
Lu, Y.C.2
Cheng, N.C.3
Soong, B.W.4
-
2
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Durr, A.4
Yvert, G.5
Cancel, G.6
Weber, C.7
Imbert, G.8
Saudou, F.9
Antoniou, E.10
Drabkin, H.11
Gemmill, R.12
Giunti, P.13
Benomar, A.14
Wood, N.15
Ruberg, M.16
Agid, Y.17
Mandel, J.L.18
Brice, A.19
-
3
-
-
0029792130
-
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
-
Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ (1996) Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59:392-399
-
(1996)
Am J Hum Genet
, vol.59
, pp. 392-399
-
-
Flanigan, K.1
Gardner, K.2
Alderson, K.3
Galster, B.4
Otterud, B.5
Leppert, M.F.6
Kaplan, C.7
Ptacek, L.J.8
-
4
-
-
15244353858
-
Epidemiologic investigation of motor neuron disease in the southern part of Nagano prefecture
-
Tokyo In Japanese
-
Fujimori N, Kagaya H, Yanagisawa N, Tsukagoshi H (1979) Epidemiologic investigation of motor neuron disease in the southern part of Nagano prefecture. Clin Neurol (Tokyo) 19:91-97 (In Japanese)
-
(1979)
Clin Neurol
, vol.19
, pp. 91-97
-
-
Fujimori, N.1
Kagaya, H.2
Yanagisawa, N.3
Tsukagoshi, H.4
-
5
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
6
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL (1999) Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392
-
(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-Saecker, A.M.15
Epplen, J.T.16
Riess, O.17
Ross, C.A.18
Margolis, R.L.19
-
7
-
-
0023091943
-
Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients
-
Ikeda S, Hanyu N, Hongo M, Yoshioka J, Oguchi H, Yanagisawa N, Kobayashi T, Tsukagoshi H, Ito N, Yokota T (1987) Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110:315-337
-
(1987)
Brain
, vol.110
, pp. 315-337
-
-
Ikeda, S.1
Hanyu, N.2
Hongo, M.3
Yoshioka, J.4
Oguchi, H.5
Yanagisawa, N.6
Kobayashi, T.7
Tsukagoshi, H.8
Ito, N.9
Yokota, T.10
-
8
-
-
0029932056
-
Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1. Clinical and genetic studies of a Japanese family
-
Ikeda S, Yanagisawa N, Hanyu N, Furihata K, Kobayashi T (1996) Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1. Clinical and genetic studies of a Japanese family. J Neurol Neurosurg Psychiatry 60:586-588
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.60
, pp. 586-588
-
-
Ikeda, S.1
Yanagisawa, N.2
Hanyu, N.3
Furihata, K.4
Kobayashi, T.5
-
9
-
-
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, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
Weber, C.7
Mandel, J.L.8
Cancel, G.9
Abbas, N.10
Durr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
10
-
-
0034787294
-
A survey of spinocerebellar ataxia in South Brazil - 66 New cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations
-
Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, do Ceu Moreira M, Mendonca P, Ferreirinha F, Sequeiros J, Giugliani R (2001) A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol 248:870-876
-
(2001)
J Neurol
, vol.248
, pp. 870-876
-
-
Jardim, L.B.1
Silveira, I.2
Pereira, M.L.3
Ferro, A.4
Alonso, I.5
Do Ceu Moreira, M.6
Mendonca, P.7
Ferreirinha, F.8
Sequeiros, J.9
Giugliani, R.10
-
11
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I et al (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
-
12
-
-
0038048459
-
Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: Exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
-
Knight MA, Kennerson ML, Anney RJ, Matsuura T, Nicholson GA, Salimi-Tari P, Gardner RJ, Storey E, Forrest SM (2003) Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis 13:147-157
-
(2003)
Neurobiol Dis
, vol.13
, pp. 147-157
-
-
Knight, M.A.1
Kennerson, M.L.2
Anney, R.J.3
Matsuura, T.4
Nicholson, G.A.5
Salimi-Tari, P.6
Gardner, R.J.7
Storey, E.8
Forrest, S.M.9
-
13
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral- pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
14
-
-
0037242286
-
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan
-
Li M, Ishikawa K, Toru S, Tomimitsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H (2003) Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. J Hum Genet 48:111-118
-
(2003)
J Hum Genet
, vol.48
, pp. 111-118
-
-
Li, M.1
Ishikawa, K.2
Toru, S.3
Tomimitsu, H.4
Takashima, M.5
Goto, J.6
Takiyama, Y.7
Sasaki, H.8
Imoto, I.9
Inazawa, J.10
Toda, T.11
Kanazawa, I.12
Mizusawa, H.13
-
15
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
Rasmussen, A.4
Grewal, R.P.5
Watase, K.6
Khajavi, M.7
McCall, A.E.8
Davis, C.F.9
Zu, L.10
Achari, M.11
Pulst, S.M.12
Alonso, E.13
Noebels, J.L.14
Nelson, D.L.15
Zoghbi, H.Y.16
Ashizawa, T.17
-
16
-
-
0035838438
-
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
-
Miyoshi Y, Yamada T, Tanimura M, Taniwaki T, Arakawa K, Ohyagi Y, Furuya H, Yamamoto K, Sakai K, Sasazuki T, Kira J (2001) A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 57:96-100
-
(2001)
Neurology
, vol.57
, pp. 96-100
-
-
Miyoshi, Y.1
Yamada, T.2
Tanimura, M.3
Taniwaki, T.4
Arakawa, K.5
Ohyagi, Y.6
Furuya, H.7
Yamamoto, K.8
Sakai, K.9
Sasazuki, T.10
Kira, J.11
-
17
-
-
15244362022
-
The prevalence and clinical features of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan
-
The Ministry of Health, Labour, and Welfare of Japan, In Japanese
-
Mizusawa H, Ishikawa K, Toru S, Li M (2004) The prevalence and clinical features of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. Annual report of the research committee of ataxic disease, Research on specific disease. The Ministry of Health, Labour, and Welfare of Japan, pp 67-70 (In Japanese)
-
(2004)
Annual Report of the Research Committee of Ataxic Disease, Research on Specific Disease
, pp. 67-70
-
-
Mizusawa, H.1
Ishikawa, K.2
Toru, S.3
Li, M.4
-
18
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N et al (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6:14-18
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takeda, T.7
Tadokoro, K.8
Kondo, I.9
Murayama, N.10
-
19
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I (2001) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441-1448
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
Ikeda, S.7
Tsuji, S.8
Kanazawa, I.9
-
20
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.9
Zoghbi, H.Y.10
-
21
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
Gispert, S.4
Chen, X.N.5
Lopes-Cendes, I.6
Pearlman, S.7
Starkman, S.8
Orozco-Diaz, G.9
Lunkes, A.10
DeJong, P.11
Rouleau, G.A.12
Auburger, G.13
Korenberg, J.R.14
Figueroa, C.15
Sahba, S.16
-
22
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1994) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 8:280-284
-
(1994)
Nat Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.1
Schut, L.J.2
Lundgren, J.K.3
Orr, H.T.4
Livingston, D.M.5
-
23
-
-
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, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14:277-284
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
Wakisaka, A.7
Tashiro, K.8
Ishida, Y.9
Ikeuchi, T.10
Koide, R.11
Saito, M.12
Sato, A.13
Tanaka, T.14
Hanyu, S.15
Takiyama, Y.16
Nishizawa, M.17
Shimizu, N.18
Nomura, Y.19
Segawa, M.20
Iwabuchi, K.21
Eguchi, I.22
Tanaka, H.23
Takahashi, H.24
Tsuji, S.25
more..
-
24
-
-
0344531062
-
The hereditary spinocerebellar ataxias in Japan
-
Sasaki H, Yabe I, Tashiro K (2003) The hereditary spinocerebellar ataxias in Japan. Cytogenet Genome Res 100:198-205
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 198-205
-
-
Sasaki, H.1
Yabe, I.2
Tashiro, K.3
-
25
-
-
0032574472
-
Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families
-
Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimaraes J, Loureiro L, Sequeiros J, Rouleau GA (1998) Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families. Am J Med Genet 81:134-138
-
(1998)
Am J Med Genet
, vol.81
, pp. 134-138
-
-
Silveira, I.1
Coutinho, P.2
Maciel, P.3
Gaspar, C.4
Hayes, S.5
Dias, A.6
Guimaraes, J.7
Loureiro, L.8
Sequeiros, J.9
Rouleau, G.A.10
-
26
-
-
0034931901
-
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6
-
Soong BW, Lu YC, Choo KB, Lee HY (2001) Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Arch Neurol 58:1105-1109
-
(2001)
Arch Neurol
, vol.58
, pp. 1105-1109
-
-
Soong, B.W.1
Lu, Y.C.2
Choo, K.B.3
Lee, H.Y.4
-
27
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin G, Durr A, David G, Didierjean O, Cancel G, Rivaud S, Tourbah A, Warter JM, Agid Y, Brice A (1997) Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 49:1243-1246
-
(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
-
28
-
-
9144256120
-
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
-
Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Durr A, Brice A (2004) Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol 55:97-104
-
(2004)
Ann Neurol
, vol.55
, pp. 97-104
-
-
Stevanin, G.1
Bouslam, N.2
Thobois, S.3
Azzedine, H.4
Ravaux, L.5
Boland, A.6
Schalling, M.7
Broussolle, E.8
Durr, A.9
Brice, A.10
-
29
-
-
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
-
Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Durr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S (1998) 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. Am J Hum Genet 63:1060-1066
-
(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..
-
30
-
-
0035026216
-
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
-
Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H (2001) A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. J Hum Genet 46:167-171
-
(2001)
J Hum Genet
, vol.46
, pp. 167-171
-
-
Takashima, M.1
Ishikawa, K.2
Nagaoka, U.3
Shoji, S.4
Mizusawa, H.5
-
31
-
-
0034093161
-
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
-
Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J (2000) Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 57:540-544
-
(2000)
Arch Neurol
, vol.57
, pp. 540-544
-
-
Tang, B.1
Liu, C.2
Shen, L.3
Dai, H.4
Pan, Q.5
Jing, L.6
Ouyang, S.7
Xia, J.8
-
32
-
-
0036820509
-
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
-
Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ (2002) Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet 111:388-393
-
(2002)
Hum Genet
, vol.111
, pp. 388-393
-
-
Verbeek, D.S.1
Schelhaas, J.H.2
Ippel, E.F.3
Beemer, F.A.4
Pearson, P.L.5
Sinke, R.J.6
-
33
-
-
0036830123
-
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
-
Vuillaume I, Devos D, Schraen-Maschke S, Dina C, Lemainque A, Vasseur F, Bocquillon G, Devos P, Kocinski C, Marzys C, Destee A, Sablonniere B (2002) A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann Neurol 52:666-670
-
(2002)
Ann Neurol
, vol.52
, pp. 666-670
-
-
Vuillaume, I.1
Devos, D.2
Schraen-Maschke, S.3
Dina, C.4
Lemainque, A.5
Vasseur, F.6
Bocquillon, G.7
Devos, P.8
Kocinski, C.9
Marzys, C.10
Destee, A.11
Sablonniere, B.12
-
34
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
-
van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Maat-Kievit JA, Dooijes D, Notermans NC, Lindhout D, Knoers NV, Kremer HP (2002) Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 58:702-708
-
(2002)
Neurology
, vol.58
, pp. 702-708
-
-
Warrenburg, B.P.1
Sinke, R.J.2
Verschuuren-Bemelmans, C.C.3
Scheffer, H.4
Brunt, E.R.5
Ippel, P.F.6
Maat-Kievit, J.A.7
Dooijes, D.8
Notermans, N.C.9
Lindhout, D.10
Knoers, N.V.11
Kremer, H.P.12
-
35
-
-
0346734156
-
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
-
van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ (2003) Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 61:1760-1765
-
(2003)
Neurology
, vol.61
, pp. 1760-1765
-
-
Warrenburg, B.P.1
Verbeek, D.S.2
Piersma, S.J.3
Hennekam, F.A.4
Pearson, P.L.5
Knoers, N.V.6
Kremer, H.P.7
Sinke, R.J.8
-
36
-
-
0033358555
-
Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
-
Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW (1999) Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet 65:420-426
-
(1999)
Am J Hum Genet
, vol.65
, pp. 420-426
-
-
Worth, P.F.1
Giunti, P.2
Gardner-Thorpe, C.3
Dixon, P.H.4
Davis, M.B.5
Wood, N.W.6
-
37
-
-
0346754906
-
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
-
Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K (2003) Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 60:1749-1751
-
(2003)
Arch Neurol
, vol.60
, pp. 1749-1751
-
-
Yabe, I.1
Sasaki, H.2
Chen, D.H.3
Raskind, W.H.4
Bird, T.D.5
Yamashita, I.6
Tsuji, S.7
Kikuchi, S.8
Tashiro, K.9
-
38
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
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