-
1
-
-
0010566002
-
An autopsy case of olivopontocerebellar atrophy (hereditary type)
-
(in Japanese)
-
Ando M, Takahashi T, Fujii M. An autopsy case of olivopontocerebellar atrophy (hereditary type). Asahikawa Nisseki Ishi (in Japanese) 1991;5:182-197.
-
(1991)
Asahikawa Nisseki Ishi
, vol.5
, pp. 182-197
-
-
Ando, M.1
Takahashi, T.2
Fujii, M.3
-
2
-
-
0028025275
-
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type one linked to the SCA2 locus
-
Belal S., Cancel G., Stevanin G., Hentati F., Khati C., Ben Hamida C., Auburger G., Agid Y., Ben Hamida M., Brice A. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type one linked to the SCA2 locus. Neurology. 44:1994;1423-1426.
-
(1994)
Neurology
, vol.44
, pp. 1423-1426
-
-
Belal, S.1
Cancel, G.2
Stevanin, G.3
Hentati, F.4
Khati, C.5
Ben Hamida, C.6
Auburger, G.7
Agid, Y.8
Ben Hamida, M.9
Brice, A.10
-
3
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2, and SCA3
-
Bürke K., Abele M., Fetter M., Dichgans J., Skalej M., Laccone F., Didierjean O., Brice A., Klockgether T. Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2, and SCA3. Brain. 119:1996;1497-1505.
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Bürke, K.1
Abele, M.2
Fetter, M.3
Dichgans, J.4
Skalej, M.5
Laccone, F.6
Didierjean, O.7
Brice, A.8
Klockgether, T.9
-
4
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
-
Cancel G., Dürr A., Didierjean O., Imbert G., Burk K., Lezin A., Belal S., Benomar A., Abada-Bendib M., Vial C., Guimarães J., Chneiweiss H., Stevanin G., Yvert G., Abbas N., Saudou F., Lebre A.-S., Yahyaoui M., Hentati F., Veniant J.-C., Klockgether T., Mandel J.-L., Agid Y., Brice A. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet. 6:1997;709-715.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 709-715
-
-
Cancel, G.1
Dürr, A.2
Didierjean, O.3
Imbert, G.4
Burk, K.5
Lezin, A.6
Belal, S.7
Benomar, A.8
Abada-Bendib, M.9
Vial, C.10
Guimarães, J.11
Chneiweiss, H.12
Stevanin, G.13
Yvert, G.14
Abbas, N.15
Saudou, F.16
Lebre, A.-S.17
Yahyaoui, M.18
Hentati, F.19
Veniant, J.-C.20
Klockgether, T.21
Mandel, J.-L.22
Agid, Y.23
Brice, A.24
more..
-
5
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G., Abbas N., Stevanin G., Dürr A., Yvert G., Cancel G., Weber C., Imbert G., Saudou E., Drabkin H., Gemmill R., Giunti P., Benomar A., Wood N., Ruberg M., Agid Y., Mandel J.-L., Brice A. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 17:1997;65-70.
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Dürr, A.4
Yvert, G.5
Cancel, G.6
Weber, C.7
Imbert, G.8
Saudou, E.9
Drabkin, H.10
Gemmill, R.11
Giunti, P.12
Benomar, A.13
Wood, N.14
Ruberg, M.15
Agid, Y.16
Mandel, J.-L.17
Brice, A.18
-
6
-
-
0029611008
-
Autosomal dominant ataxia type I in Martinique (French West Indies): Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Dürr A., Smadja D., Cancel G., Lezin A., Stevanin G., Mikol J., Bellance R., Buisson G.-G., Chneiweiss H., Dellanave J., Agid Y., Brice A., Vemant J.-C. Autosomal dominant ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain. 118:1995;1573-1581.
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Dürr, A.1
Smadja, D.2
Cancel, G.3
Lezin, A.4
Stevanin, G.5
Mikol, J.6
Bellance, R.7
Buisson, G.-G.8
Chneiweiss, H.9
Dellanave, J.10
Agid, Y.11
Brice, A.12
Vemant, J.-C.13
-
7
-
-
0028901773
-
Has spinocerebellar ataxia type two a distinct phenotype? Genetic and clinical study of an Italian family
-
Filla A., De Michele G., Banfi S., Santoro L., Perretti A., Cavalcanti F., Pianese L., Castaldo I., Barbieri F., Campanella G., Cocozza S. Has spinocerebellar ataxia type two a distinct phenotype? Genetic and clinical study of an Italian family. Neurology. 45:1995;793-796.
-
(1995)
Neurology
, vol.45
, pp. 793-796
-
-
Filla, A.1
De Michele, G.2
Banfi, S.3
Santoro, L.4
Perretti, A.5
Cavalcanti, F.6
Pianese, L.7
Castaldo, I.8
Barbieri, F.9
Campanella, G.10
Cocozza, S.11
-
8
-
-
0030272050
-
Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes
-
Filla A., De Michele G., Campanella G., Perretti A., Santoro L., Serlenga L., Ragno M., Calabrese O., Castaldo I., De Joanna G., Cocozza S. Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes. J Neurol Sci. 142:1996;140-147.
-
(1996)
J Neurol Sci
, vol.142
, pp. 140-147
-
-
Filla, A.1
De Michele, G.2
Campanella, G.3
Perretti, A.4
Santoro, L.5
Serlenga, L.6
Ragno, M.7
Calabrese, O.8
Castaldo, I.9
De Joanna, G.10
Cocozza, S.11
-
9
-
-
0030944114
-
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type two trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
-
Geschwind D.H., Perlman S., Figueroa C.P., Treiman L.J., Pulst S.M. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type two trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet. 60:1997;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
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert S., Twells R., Orozco G., Brice A., Weber J., Heredero L., Scheufler K., Riley B., Allotey R., Nothers C., Hillermann R., Lunkes A., Khati C., Stevanin G., Hernandez A., Magariflo C., Klockgether T., Dürr A., Chneiweiss H., Enczmann J., Farrall M., Beckmann J., Mullan M., Wemet P., Agid Y., Freund H.-J., Williamson R., Auburger G., Chamberlain S. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet. 4:1993;295-299.
-
(1993)
Nat Genet
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
Brice, A.4
Weber, J.5
Heredero, L.6
Scheufler, K.7
Riley, B.8
Allotey, R.9
Nothers, C.10
Hillermann, R.11
Lunkes, A.12
Khati, C.13
Stevanin, G.14
Hernandez, A.15
Magariflo, C.16
Klockgether, T.17
Dürr, A.18
Chneiweiss, H.19
Enczmann, J.20
Farrall, M.21
Beckmann, J.22
Mullan, M.23
Wemet, P.24
Agid, Y.25
Freund, H.-J.26
Williamson, R.27
Auburger, G.28
Chamberlain, S.29
more..
-
11
-
-
9244229051
-
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
-
Goldfarb L.G., Vasconcelos O., Platonov F.A., Lunkes A., Kipnis V., Kononova S., Chabrashvili T., Vladimirtsev V.A., Alexeev V.P., Gajdusek D.C. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol. 39:1996;500-506.
-
(1996)
Ann Neurol
, vol.39
, pp. 500-506
-
-
Goldfarb, L.G.1
Vasconcelos, O.2
Platonov, F.A.3
Lunkes, A.4
Kipnis, V.5
Kononova, S.6
Chabrashvili, T.7
Vladimirtsev, V.A.8
Alexeev, V.P.9
Gajdusek, D.C.10
-
12
-
-
0028138380
-
Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: Linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)
-
Ihara T., Sasaki H., Wakisaka A., Takada A., Yoshiki T., Matsuura T., Hamada T., Suzuki Y., Tashiro K. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2). Jpn J Hum Genet. 39:1994;305-313.
-
(1994)
Jpn J Hum Genet
, vol.39
, pp. 305-313
-
-
Ihara, T.1
Sasaki, H.2
Wakisaka, A.3
Takada, A.4
Yoshiki, T.5
Matsuura, T.6
Hamada, T.7
Suzuki, Y.8
Tashiro, K.9
-
13
-
-
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., Gamier J.-M., Weber C., Mandel J.-L., Cancel G., Abbas N., Dürr A., Didierjean O., Stevanin G., Agid Y., Brice A. Cloning of the gene for spinocerebellar ataxia-2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet. 14:1996;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
Gamier, J.-M.6
Weber, C.7
Mandel, J.-L.8
Cancel, G.9
Abbas, N.10
Dürr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
14
-
-
0027442881
-
A family with Menzel's disease showing dementia and various extrapyramidal symptoms
-
(in Japanese)
-
Iwabuchi K, Nagatomo H, Tanabe T, Oda T, Itoh H, Hanihara T, Yagishita S. A family with Menzel's disease showing dementia and various extrapyramidal symptoms. Brain and Nerve (in Japanese) 1993;45:841-9.
-
(1993)
Brain and Nerve
, vol.45
, pp. 841-849
-
-
Iwabuchi, K.1
Nagatomo, H.2
Tanabe, T.3
Oda, T.4
Itoh, H.5
Hanihara, T.6
Yagishita, S.7
-
15
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia one
-
Jodice C., Malaspina P., Persichetti F., Novelletto A., Spadaro M., Giunti P., Morocutti C., Terrenato L., Harding A.E., Frontali M. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia one. Am J Hum Genet. 54:1994;959-965.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
Novelletto, A.4
Spadaro, M.5
Giunti, P.6
Morocutti, C.7
Terrenato, L.8
Harding, A.E.9
Frontali, M.10
-
16
-
-
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., Kimura J., Narumiya S., Kakizuka A. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 8:1994;221-227.
-
(1994)
Nat Genet
, vol.8
, pp. 221-227
-
-
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
-
17
-
-
0029286517
-
Unique features of the CAG repeats in Machado-Joseph disease
-
Kawakami H., Maruyama H., Nakamura S., Kawaguchi Y., Kakizuka A., Doyu M., Sobue G. Unique features of the CAG repeats in Machado-Joseph disease. Nat Genet. 9:1995;341-345.
-
(1995)
Nat Genet
, vol.9
, pp. 341-345
-
-
Kawakami, H.1
Maruyama, H.2
Nakamura, S.3
Kawaguchi, Y.4
Kakizuka, A.5
Doyu, M.6
Sobue, G.7
-
18
-
-
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. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 6:1994;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
-
19
-
-
0030992098
-
Homozygosity for an allele carrying intermediate CAG repeats in dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia
-
Kurohara K., Kuroda Y., Maruyama H., Kawakami H., Yukitake M., Matsui M., Nakamura S. Homozygosity for an allele carrying intermediate CAG repeats in dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia. Neurology. 48:1997;1087-1090.
-
(1997)
Neurology
, vol.48
, pp. 1087-1090
-
-
Kurohara, K.1
Kuroda, Y.2
Maruyama, H.3
Kawakami, H.4
Yukitake, M.5
Matsui, M.6
Nakamura, S.7
-
20
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
LaSpada A.R., Wilson E.M., Lubhn D.B., Harding A.E., Fishbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352:1991;77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
Laspada, A.R.1
Wilson, E.M.2
Lubhn, D.B.3
Harding, A.E.4
Fishbeck, K.H.5
-
21
-
-
0028024318
-
Homozygous inheritance of the Machado-Joseph disease gene
-
Lang A.E., Rogaeva E.A., Tsuda T., Hutterer J., St George-Hyslop P. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol. 36:1994;443-447.
-
(1994)
Ann Neurol
, vol.36
, pp. 443-447
-
-
Lang, A.E.1
Rogaeva, E.A.2
Tsuda, T.3
Hutterer, J.4
St George-Hyslop, P.5
-
22
-
-
0028215542
-
Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region
-
Lopes-Cendes I., Andermann E., Attig E., Cendes F., Bosch S., Wagner M., Gerstenbrand F., Andermann F., Rouleau G.A. Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am J Hum Genet. 54:1994;774-781.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 774-781
-
-
Lopes-Cendes, I.1
Andermann, E.2
Attig, E.3
Cendes, F.4
Bosch, S.5
Wagner, M.6
Gerstenbrand, F.7
Andermann, F.8
Rouleau, G.A.9
-
23
-
-
0030668895
-
The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia
-
Lorenzetti D., Bohlega S., Zoghbi H.Y. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 49:1997;1009-1013.
-
(1997)
Neurology
, vol.49
, pp. 1009-1013
-
-
Lorenzetti, D.1
Bohlega, S.2
Zoghbi, H.Y.3
-
24
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P., Gaspar C., DeStefano A.L., Silveira I., Coutinho P., Radvany J., Dawson D.M., Sudarsky L., Guimaraes J., Loureiro J.E.L., Nezarati M.M., Corwin L.I., Lopes-Cendes I., Rooke K., Rosenberg R., MacLeod P., Farrer L.A., Sequeiros J., Rouleau G.A. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 57:1995;54-61.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 54-61
-
-
MacIel, P.1
Gaspar, C.2
Destefano, A.L.3
Silveira, I.4
Coutinho, P.5
Radvany, J.6
Dawson, D.M.7
Sudarsky, L.8
Guimaraes, J.9
Loureiro, J.E.L.10
Nezarati, M.M.11
Corwin, L.I.12
Lopes-Cendes, I.13
Rooke, K.14
Rosenberg, R.15
MacLeod, P.16
Farrer, L.A.17
Sequeiros, J.18
Rouleau, G.A.19
-
25
-
-
0024432090
-
Homozygote for Huntington disease
-
Myers R.H., Leavitt J., Farrer L.A., Jagadeesh J., McFarlane H., Mastromauro C.A., Mark R.J., Gusella J.F. Homozygote for Huntington disease. Am J Hum Genet. 45:1989;615-618.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 615-618
-
-
Myers, R.H.1
Leavitt, J.2
Farrer, L.A.3
Jagadeesh, J.4
McFarlane, H.5
Mastromauro, C.A.6
Mark, R.J.7
Gusella, J.F.8
-
26
-
-
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., Tanaka Y., Kikushima H., Umino K., Kurosawa H., Furukawa T., Nihei K., Inoue T., Sao A., Komure O., Takahashi M., Yoshizawa T., Kanazawa I., Yamada M. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 6:1994;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
Sao, A.18
Komure, O.19
Takahashi, M.20
Yoshizawa, T.21
Kanazawa, I.22
Yamada, M.23
more..
-
27
-
-
0024422743
-
Dominantly inherited olivopontocerebellar atrophy from eastern Cuba; Clinical, neuropathological, and biochemical findings
-
Orozco G., Estrada R., Perry T.L., Araña J., Fernandez R., Gonzalez-Quevedo A., Galarraga J., Hansen S. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba; clinical, neuropathological, and biochemical findings. J Neurol Sci. 93:1989;37-50.
-
(1989)
J Neurol Sci
, vol.93
, pp. 37-50
-
-
Orozco, G.1
Estrada, R.2
Perry, T.L.3
Araña, J.4
Fernandez, R.5
Gonzalez-Quevedo, A.6
Galarraga, J.7
Hansen, S.8
-
28
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguín
-
Orozco Diaz G., Nodarse Fleites A., Cordovése Sagaz R., Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín. Cuba. Neurology. 40:1990;1369-1375.
-
(1990)
Cuba. Neurology
, vol.40
, pp. 1369-1375
-
-
Orozco Diaz, G.1
Nodarse Fleites, A.2
Cordovése Sagaz, R.3
Auburger, G.4
-
29
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr H.T., Chung M.-Y., Banfi S., Kwiatokowski T.J. Jr., Servadio A., Beaudet A.L., McCall A.E., Duvick L.A., Ranum L.P.W., Zoghbi H.Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:1993;221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
Kwiatokowski T.J., Jr.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
31
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S.-M., Nechiporuk A., Nechiporuk T., Gispert S., Chen X.-N., Lopes-Cendes I., Pearlman S., Starkman S., Orozco-Diaz G., Lunkes A., DeJong P., Rouleau G.A., Auburger G., Korenberg J.R., Figueroa C., Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 14:1996;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
-
32
-
-
0026708036
-
Machado-Joseph disease: An autosomal dominant motor system degeneration
-
Rosenberg R.N. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord. 7:1992;193-203.
-
(1992)
Mov Disord
, vol.7
, pp. 193-203
-
-
Rosenberg, R.N.1
-
33
-
-
0030292368
-
Identification of the gene for spinocerebellar ataxia type two (SCA2) 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 H., Hanyu S., Takiyama Y., Nishizawa M., Shimizu N., Nomura Y., Segawa M., Iwabuchi K., Eguchi I., Tanaka H., Takahashi H., Tsuji S. Identification of the gene for spinocerebellar ataxia type two (SCA2) using a direct identification of repeat expansion and cloning technique (DIRECT). Nat Genet. 14:1996;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, H.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..
-
34
-
-
0030449316
-
Central phenotype and related varieties of spinocerebellar ataxia-2 (SCA2) - A clinical and genetic study with a pedigree in the Japanese
-
Sasaki H., Fukazawa T., Wakisaka A., Hamada K., Hamada T., Koyama T., Tsuji S., Tashiro K. Central phenotype and related varieties of spinocerebellar ataxia-2 (SCA2) - a clinical and genetic study with a pedigree in the Japanese. J Neurol Sci. 144:1996;176-181.
-
(1996)
J Neurol Sci
, vol.144
, pp. 176-181
-
-
Sasaki, H.1
Fukazawa, T.2
Wakisaka, A.3
Hamada, K.4
Hamada, T.5
Koyama, T.6
Tsuji, S.7
Tashiro, K.8
-
35
-
-
0029431673
-
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?
-
Sato K., Kashihara K., Okada S., Ikeuchi T., Tsuji S., Shomori T., Shomori T., Morimoto K., Hayabara T. Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology. 45:1995;1934-1936.
-
(1995)
Neurology
, vol.45
, pp. 1934-1936
-
-
Sato, K.1
Kashihara, K.2
Okada, S.3
Ikeuchi, T.4
Tsuji, S.5
Shomori, T.6
Shomori, T.7
Morimoto, K.8
Hayabara, T.9
-
36
-
-
15444348424
-
Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds
-
Shols L., Gispert S., Vorgerd M., Vieira-Saecker A.M.M., Blanke P., Auburger G., Amoiridis G., Meves S., Epplen J.T., Przuntek H., Pulst S.-M., Riess O. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol. 54:1997;1073-1080.
-
(1997)
Arch Neurol
, vol.54
, pp. 1073-1080
-
-
Shols, L.1
Gispert, S.2
Vorgerd, M.3
Vieira-Saecker, A.M.M.4
Blanke, P.5
Auburger, G.6
Amoiridis, G.7
Meves, S.8
Epplen, J.T.9
Przuntek, H.10
Pulst, S.-M.11
Riess, O.12
-
37
-
-
0029878024
-
Homozygosity for Machado-Joseph disease gene enhances phenotypic severity
-
Sobue G, Doyu M, Nakao N, Shimada N, Mitsuma T, Maruyama H, Kawakami H, Nakamura S. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity. J Neurol Neurosurg Psychiatry 1996;60:354-7.
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.60
, pp. 354-357
-
-
Sobue, G.1
Doyu, M.2
Nakao, N.3
Shimada, N.4
Mitsuma, T.5
Maruyama, H.6
Kawakami, H.7
Nakamura, S.8
-
38
-
-
0029009456
-
Evidence for inter-generational instability in the CAG repeat on the MJD1 gene and conserved haplotypes at flanking markers amongst Japanese and caucasian subjects with Machado-Joseph disease
-
Takiyama Y., Igarashi Y., Rogaeva E.A., Endo K., Rogaev E.I., Tanaka H., Sherrington R., Sanpei K., Liang Y., Saito M., Tsuda T., Tanano H., Ikeda M., Lin C., Chi H., Kennedy J.L., Lang A.E., Wherrett J.R., Segawa M., Nomura Y., Yuasa T., Weissenbach J., Yoshida M., Nishizawa M., Kidd K.K., Tsuji S., St George-Hyslop P.H. Evidence for inter-generational instability in the CAG repeat on the MJD1 gene and conserved haplotypes at flanking markers amongst Japanese and caucasian subjects with Machado-Joseph disease. Hum Mol Genet. 4:1995;1137-1146.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, Y.2
Rogaeva, E.A.3
Endo, K.4
Rogaev, E.I.5
Tanaka, H.6
Sherrington, R.7
Sanpei, K.8
Liang, Y.9
Saito, M.10
Tsuda, T.11
Tanano, H.12
Ikeda, M.13
Lin, C.14
Chi, H.15
Kennedy, J.L.16
Lang, A.E.17
Wherrett, J.R.18
Segawa, M.19
Nomura, Y.20
Yuasa, T.21
Weissenbach, J.22
Yoshida, M.23
Nishizawa, M.24
Kidd, K.K.25
Tsuji, S.26
St George-Hyslop, P.H.27
more..
-
39
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's disease collaborative research group
-
The Huntington's disease collaborative research group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
40
-
-
0023115076
-
Homozygotes for Huntington's disease mutation
-
Wexler N.S., Young A.B., Tanzi R.E., Travers H., Starosta-Rubinstein S., Penney J.B., Snodgrass S.R., Shoulson I., Gomez F., Arroyo M.A.R., Penchaszadeh G.K., Moreno H., Gibbons K., Faryniarz A., Hobbs W., Anderson M.A., Bonilla E., Conneally P.M., Gusella J.F. Homozygotes for Huntington's disease mutation. Nature. 326:1987;194-197.
-
(1987)
Nature
, vol.326
, pp. 194-197
-
-
Wexler, N.S.1
Young, A.B.2
Tanzi, R.E.3
Travers, H.4
Starosta-Rubinstein, S.5
Penney, J.B.6
Snodgrass, S.R.7
Shoulson, I.8
Gomez, F.9
Arroyo, M.A.R.10
Penchaszadeh, G.K.11
Moreno, H.12
Gibbons, K.13
Faryniarz, A.14
Hobbs, W.15
Anderson, M.A.16
Bonilla, E.17
Conneally, P.M.18
Gusella, J.F.19
|