-
1
-
-
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: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1994;4: 221-226.
-
(1994)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski T.J., Jr.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.9
Zoghbi, H.Y.10
-
2
-
-
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: 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
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
-
3
-
-
0028143527
-
CAG expansion 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, Kimura J, Narumiya S, Kakizuka A: CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;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
Kimura, J.11
Narumiya, S.12
Kakizuka, A.13
-
4
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of 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, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Ymada M: Dentatorubral and pallidoluysian atrophy expansion of unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994;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
Tanaka, Y.11
Kikushima, H.12
Umino, K.13
Kurosawa, H.14
Furukawa, T.15
Nihei, K.16
Inoue, T.17
Sano, A.18
Komure, O.19
Takahashi, M.20
Yoshizawa, T.21
Kanazawa, I.22
Ymada, M.23
more..
-
5
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nat Genet 1997;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
-
6
-
-
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: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;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
-
7
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
Koob MD, Moseley ML, Schul LJ, Benzow KA, Bird TD, Day JW, Ranum LP: An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-384.
-
(1999)
Nat Genet
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schul, L.J.3
Benzow, K.A.4
Bird, T.D.5
Day, J.W.6
Ranum, L.P.7
-
8
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, Michele GD, Filla A, Frutos RD, Palau F, Patel PI, Donato SD, Mandel JL, Cocozza S, Koenig M, Pandolfo M: Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
Michele, G.D.18
Filla, A.19
Frutos, R.D.20
Palau, F.21
Patel, P.I.22
Donato, S.D.23
Mandel, J.L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
9
-
-
0030944114
-
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide 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 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
-
-
0032930168
-
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia
-
Jin DK, Oh MR, Song SM, Koh SW, Lee M, Kim GM, Lee WY, Chung CS, Lee KH, Im JH, Lee MJ, Kim JW, Lee MS: Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J Neurol 1999;246:207-210.
-
(1999)
J Neurol
, vol.246
, pp. 207-210
-
-
Jin, D.K.1
Oh, M.R.2
Song, S.M.3
Koh, S.W.4
Lee, M.5
Kim, G.M.6
Lee, W.Y.7
Chung, C.S.8
Lee, K.H.9
Im, J.H.10
Lee, M.J.11
Kim, J.W.12
Lee, M.S.13
-
11
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin G, Dürr A, David G, Didierjean O, Cancel G, Rivaud S, Tourbah A, Warter JM, Agid Y, Brice A: Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997;49:1243-1246.
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Dürr, 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
-
12
-
-
9344245162
-
Frequency of spinocerebellar ataxia type 1, dentatorubral pallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
-
Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Junior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA: Frequency of spinocerebellar ataxia type 1, dentatorubral pallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996;46:214-218.
-
(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
Jerin, 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..
-
13
-
-
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: 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 1998;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..
-
14
-
-
0030810204
-
Analysis of spinocerebellar ataxia types 1, 2, 3 and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK
-
Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, Rubinsztein DC: Analysis of spinocerebellar ataxia types 1, 2, 3 and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet 1997; 34:982-985.
-
(1997)
J Med Genet
, vol.34
, pp. 982-985
-
-
Leggo, J.1
Dalton, A.2
Morrison, P.J.3
Dodge, A.4
Connarty, M.5
Kotze, M.J.6
Rubinsztein, D.C.7
-
15
-
-
0031960474
-
Spinocerebellar ataxia type 6: Genotype and phenotype in German kindreds
-
Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O: Spinocerebellar ataxia type 6: Genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998;64: 67-73.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 67-73
-
-
Schöls, L.1
Krüger, R.2
Amoiridis, G.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
16
-
-
0028217057
-
Spinocerebellar degenerations in Japan: A nationwide epidemiological and clinical study
-
Hirayama K, Takayanagi T, Nakamura R, Yanagisawa N, Hattori T, Kita K, Yanagimoto S, Fujita M, Nagaoka M, Satomura Y, Sobue I, Iizuka R, Toyokura Y, Satoyoshi E: Spinocerebellar degenerations in Japan: A nationwide epidemiological and clinical study. Acta Neurol Scand 1994;suppl 153:1-22.
-
(1994)
Acta Neurol Scand
, Issue.SUPPL. 153
, pp. 1-22
-
-
Hirayama, K.1
Takayanagi, T.2
Nakamura, R.3
Yanagisawa, N.4
Hattori, T.5
Kita, K.6
Yanagimoto, S.7
Fujita, M.8
Nagaoka, M.9
Satomura, Y.10
Sobue, I.11
Iizuka, R.12
Toyokura, Y.13
Satoyoshi, E.14
-
17
-
-
0024565036
-
Epidemiology of spinocerebellar degeneration in Tottori prefecture
-
Tokyo
-
Harada H, Takahashi K: Epidemiology of spinocerebellar degeneration in Tottori prefecture. Clin Neurol (Tokyo) 1989;29:164-166.
-
(1989)
Clin Neurol
, vol.29
, pp. 164-166
-
-
Harada, H.1
Takahashi, K.2
-
18
-
-
0342390100
-
Epidemiology of amyotrophic lateral sclerosis, myasthenia gravis, multiple sclerosis and spinocerebellar degeneration in Tottori prefecture, Japan: All prevalences are rising
-
Kusumi M, Nakashima K, Harada H, Nakayama H, Takahashi K: Epidemiology of amyotrophic lateral sclerosis, myasthenia gravis, multiple sclerosis and spinocerebellar degeneration in Tottori prefecture, Japan: All prevalences are rising. Yonago Acta Med 1995;38: 153-158.
-
(1995)
Yonago Acta Med
, vol.38
, pp. 153-158
-
-
Kusumi, M.1
Nakashima, K.2
Harada, H.3
Nakayama, H.4
Takahashi, K.5
-
19
-
-
0029084074
-
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
-
Leeflang EP, Zhang L, Tavare S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF, Arnheim N: Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum. Hum Mol Genet 1995;4:1519-1526.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1519-1526
-
-
Leeflang, E.P.1
Zhang, L.2
Tavare, S.3
Hubert, R.4
Srinidhi, J.5
MacDonald, M.E.6
Myers, R.H.7
De Young, M.8
Wexler, N.S.9
Gusella, J.F.10
Arnheim, N.11
-
20
-
-
0027982427
-
Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene
-
Zhang L, Leeflang EP, Yu J, Arnheim N: Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene. Nat Genet 1994;7:531-535.
-
(1994)
Nat Genet
, vol.7
, pp. 531-535
-
-
Zhang, L.1
Leeflang, E.P.2
Yu, J.3
Arnheim, N.4
-
21
-
-
0031647246
-
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
-
Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, Blindauer KA, Labuda M, Pandolfo M, Koob MD, Ranum LP: Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998;51:1666-1671.
-
(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.11
-
22
-
-
0031128793
-
Trinucleotide expansion in German SCA patients
-
Riess O, Laccone FA, Gispert S, Schols L, Zuhlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M Jr, Krebsova A, Macek M Sr, Burk K, Tinschert S, Schreyer I, Pulst SM, Auburger G: Trinucleotide expansion in German SCA patients. Neurogenetics 1497;1:59-64.
-
(1497)
Neurogenetics
, vol.1
, pp. 59-64
-
-
Riess, O.1
Laccone, F.A.2
Gispert, S.3
Schols, L.4
Zuhlke, C.5
Vieira-Saecker, A.M.6
Herlt, S.7
Wessel, K.8
Epplen, J.T.9
Weber, B.H.10
Kreuz, F.11
Chahrokh-Zadeh, S.12
Meindl, A.13
Lunkes, A.14
Aguiar, J.15
Macek M., Jr.16
Krebsova, A.17
Macek M., Sr.18
Burk, K.19
Tinschert, S.20
Schreyer, I.21
Pulst, S.M.22
Auburger, G.23
more..
-
23
-
-
0030679611
-
Spinocerebellar ataxia type 6: Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
-
Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, Takayanagi T: Spinocerebellar ataxia type 6: Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49 1238-1243.
-
(1997)
Neurology
, vol.49
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
Yanagimoto, S.4
Horikawa, H.5
Suzumura, A.6
Takayanagi, T.7
-
24
-
-
0006379804
-
A Japanese family of spinocerebellar ataxia type 7
-
Adachi Y, Oota M, Mori M, Nakashima K: A Japanese family of spinocerebellar ataxia type 7. Neurol Med 1998;49:303-304.
-
(1998)
Neurol Med
, vol.49
, pp. 303-304
-
-
Adachi, Y.1
Oota, M.2
Mori, M.3
Nakashima, K.4
-
25
-
-
0026501942
-
Sequence identification of 2,375 human brain genes
-
Adams MD, Duhnick M, Kerlavage AR, Moreno R, Kelley JM, Utterback TR, Nagle JW, Fields C, Venter JC: Sequence identification of 2,375 human brain genes. Nature 1992;355: 632-634.
-
(1992)
Nature
, vol.355
, pp. 632-634
-
-
Adams, M.D.1
Duhnick, M.2
Kerlavage, A.R.3
Moreno, R.4
Kelley, J.M.5
Utterback, T.R.6
Nagle, J.W.7
Fields, C.8
Venter, J.C.9
-
26
-
-
0027297703
-
Novel triplet repeat containing genes in human brain: Cloning, expression and length polymorphism
-
Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA: Novel triplet repeat containing genes in human brain: Cloning, expression and length polymorphism. Genomics 1993;16: 572-579.
-
(1993)
Genomics
, vol.16
, pp. 572-579
-
-
Li, S.H.1
McInnis, M.G.2
Margolis, R.L.3
Antonarakis, S.E.4
Ross, C.A.5
|