-
1
-
-
0015251021
-
Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts
-
Nakano, K. K., Dawson, D. M. and Spence, A. (1972) Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology. 22,49-55.
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
2
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity
-
Woods, B. T. and Schaumburg, H. H. (1972) Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.J. Neurol. Sci.,17, 149-166.
-
(1972)
J. Neurol. Sci.
, vol.17
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
-
3
-
-
0017117382
-
Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg, R. N., Nyhan, W. L., Bay, C. and Shore, P. (1976) Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology,26, 703-714.
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Rosenberg, R.N.1
Nyhan, W.L.2
Bay, C.3
Shore, P.4
-
4
-
-
0020691438
-
Joseph disease in a non-Portuguese family
-
Sakai, T., Ohta, M. and Ishino, H. (1983) Joseph disease in a non-Portuguese family. Neurology,33, 74-80.
-
(1983)
Neurology
, vol.33
, pp. 74-80
-
-
Sakai, T.1
Ohta, M.2
Ishino, H.3
-
5
-
-
0026793566
-
Research initiatives on Machado-Joseph disease: National Institute of Neurological Disorders and Stroke Workshop summary
-
Spinella, G. M. and Sheridan, P. H. (1992) Research initiatives on Machado-Joseph disease: National Institute of Neurological Disorders and Stroke Workshop summary. Neurology,42, 2048-2051.
-
(1992)
Neurology
, vol.42
, pp. 2048-2051
-
-
Spinella, G.M.1
Sheridan, P.H.2
-
6
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
Harding, A. E. and Deufel, T, Raven Press, New York
-
Sequeiros, J. and Coutinho, P. (1993) Epidemiology and clinical aspects of Machado-Joseph disease. In Harding, A. E. and Deufel, T. (eds), Advances in Neurology: Inherited Ataxias.Raven Press, New York, Vol. 61, pp. 139-153.
-
(1993)
Advances in Neurology: Inherited Ataxias
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
7
-
-
0018872672
-
Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
-
Lima, L. and Coutinho, P. (1980) Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family. Neurology,30, 319-322.
-
(1980)
Neurology
, vol.30
, pp. 319-322
-
-
Lima, L.1
Coutinho, P.2
-
8
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama, Y., Nishizawa, M., Tanaka, H., Kawashima, S., Sakamoto, H., Karube, Y., Shimazaki, H., Soutome, M., Endo, K., Ohta, S., Kagawa, Y., Kanazawa, I., Mizuno, Y., Yoshida, M., Yuasa, T., Horikawa, Y., Oyanagi, K., Nagai, H., Kondo, T., Inuzuka, T., Onodera, O. and Tsuji, S. (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet.,4, 300-304.
-
(1993)
Nature Genet.
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
Shimazaki, H.7
Soutome, M.8
Endo, K.9
Ohta, S.10
Kagawa, Y.11
Kanazawa, I.12
Mizuno, Y.13
Yoshida, M.14
Yuasa, T.15
Horikawa, Y.16
Oyanagi, K.17
Nagai, H.18
Kondo, T.19
Inuzuka, T.20
Onodera, O.21
Tsuji, S.22
more..
-
9
-
-
0028141728
-
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14
-
St George-Hyslop, P., Rogaeva, E., Huterer, J., Tsuda, T., Santos, J., Haines, J. L., Schlumpf, K., Rogaev, E. I., Liang, Y., McLachlan, D. R., Kennedy, J., Weissenbach, J., Billingsley, G. D., Cox, D. W., Lang, A. E. and Wherrett, J. R. (1994) Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am. J. Hum. Genet.,55, 120-125.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 120-125
-
-
St George-Hyslop, P.1
Rogaeva, E.2
Huterer, J.3
Tsuda, T.4
Santos, J.5
Haines, J.L.6
Schlumpf, K.7
Rogaev, E.I.8
Liang, Y.9
McLachlan, D.R.10
Kennedy, J.11
Weissenbach, J.12
Billingsley, G.D.13
Cox, D.W.14
Lang, A.E.15
Wherrett, J.R.16
-
10
-
-
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. and Kakizuka, A. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet.,8, 221-228.
-
(1994)
Nature 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
-
11
-
-
0027023516
-
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
-
La Spada A. R., Roling, D. B., Harding, A. E., Warner, C. L., Spiegel, R., Hausmanowa, P. I., Yee, W. C. and Fischbeck, K. H. (1992) Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet.,2,301-304.
-
(1992)
Nature Genet.
, vol.2
, pp. 301-304
-
-
La Spada, A.R.1
Roling, D.B.2
Harding, A.E.3
Warner, C.L.4
Spiegel, R.5
Hausmanowa, P.I.6
Yee, W.C.7
Fischbeck, K.H.8
-
12
-
-
0026456689
-
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeal in androgen receptor gene
-
Doyu, M., Sobue, G., Mukai, E., Kachi, T., Yasuda, T., Mitsuma, T. and Takahashi, A. (1992) Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeal in androgen receptor gene. Ann. Neurol.,32, 707-710.
-
(1992)
Ann. Neurol.
, vol.32
, pp. 707-710
-
-
Doyu, M.1
Sobue, G.2
Mukai, E.3
Kachi, T.4
Yasuda, T.5
Mitsuma, T.6
Takahashi, A.7
-
13
-
-
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 (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell,72, 971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
14
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
-
Andrew, S. E., Goldberg, Y. P., Kremer, B., Telenius, H., Theilmann, J., Adam, S., Starr, E., Squitieri, F., Lin, B., Kalchman, M. A., Graham, R. K. and Hayden, M. R. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet.,4, 398-403.
-
(1993)
Nature Genet.
, vol.4
, pp. 398-403
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, B.3
Telenius, H.4
Theilmann, J.5
Adam, S.6
Starr, E.7
Squitieri, F.8
Lin, B.9
Kalchman, M.A.10
Graham, R.K.11
Hayden, M.R.12
-
15
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington’s disease
-
Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folslein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., Young, A., Penny, J., Hollingsworth, Z., Shoulson, I., Lazzarini, A., Falek, A., Koroshetz, W., Sax, D., Bird, E., Vonsattel, J., Bonilla, E., Alvir, J., Bickham Conde, J., Cha, J.-H., Dure, L., Gomez, F., Ramos, M., Scanchez-Ramos, J., Snodgrass, S., de Young, M., Wexler, N., Moscowitz, G., Penchaszadeh, G., MacFarlane, H., Anderson, M., Jenkins, B., Srinidhi, J., Barnes, G., Gusella, J. and MacDonald, M. (1993) Trinucleotide repeat length instability and age of onset in Huntington’s disease. Nature Genet.,4, 387-392.
-
(1993)
Nature Genet.
, vol.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
Novelletto, A.4
Persichetti, F.5
Frontali, M.6
Folslein, S.7
Ross, C.8
Franz, M.9
Abbott, M.10
Gray, J.11
Conneally, P.12
Young, A.13
Penny, J.14
Hollingsworth, Z.15
Shoulson, I.16
Lazzarini, A.17
Falek, A.18
Koroshetz, W.19
Sax, D.20
Bird, E.21
Vonsattel, J.22
Bonilla, E.23
Alvir, J.24
Bickham Conde, J.25
Cha, J.-H.26
Dure, L.27
Gomez, F.28
Ramos, M.29
Scanchez-Ramos, J.30
Snodgrass, S.31
De Young, M.32
Wexler, N.33
Moscowitz, G.34
Penchaszadeh, G.35
Macfarlane, H.36
Erson, M.37
Jenkins, B.38
Srinidhi, J.39
Barnes, G.40
Gusella, J.41
Macdonald, M.42
more..
-
16
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
Snell, R. G., MacMillan, J. C., Cheadle, J. P., Fenton, I., Lazarou, L. P., Davies, P., MacDonald, M. E., Gusella, J. F., Harper, P. S. and Shaw, D. J. (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet.,4, 393-397.
-
(1993)
Nature Genet.
, vol.4
, pp. 393-397
-
-
Snell, R.G.1
Macmillan, J.C.2
Cheadle, J.P.3
Fenton, I.4
Lazarou, L.P.5
Davies, P.6
Macdonald, M.E.7
Gusella, J.F.8
Harper, P.S.9
Shaw, D.J.10
-
17
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr, H. T., Chung, M. Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. and Zoghbi, H. Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet.,4, 221-226.
-
(1993)
Nature Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski, 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
-
18
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
-
Chung, M. Y., Ranum, L. P., Duvick, L. A., Servadio, A., Zoghbi, H. Y. and Orr, H. T. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet.,5, 254-8.
-
(1993)
Nature Genet.
, vol.5
, pp. 254-258
-
-
Chung, M.Y.1
Ranum, L.P.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
19
-
-
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. and Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet.,6, 9-13.
-
(1994)
Nature 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
-
20
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome I2p
-
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. and Yamada, M. (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome I2p. Nature Genet.,6, 14-18.
-
(1994)
Nature 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
Yamada, M.23
more..
-
21
-
-
84968636080
-
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure, O., Sano, A., Nishino, N., Yamauchi, N., Ueno, S., Kondoh, K., Sano, N., Takahashi, M., Murayama, N., Kondo, I., Nagafuchi, S., Yamada, M. and Kanazawa, I. (1987) DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology.
-
(1987)
Neurology
-
-
Komure, O.1
Sano, A.2
Nishino, N.3
Yamauchi, N.4
Ueno, S.5
Kondoh, K.6
Sano, N.7
Takahashi, M.8
Murayama, N.9
Kondo, I.10
Nagafuchi, S.11
Yamada, M.12
Kanazawa, I.13
-
22
-
-
0021719186
-
The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases
-
Barbeau, A., Roy, M., Cunha, L., de Vincente, A. N., Rosenberg, R. N., Nyhan, W. L., MacLeod, P. L., Chazot, G., Langston, L. B., Dawson, D. M. and Coutinho, P. (1984) The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. Can. J. Neurol. Sci.,11, 510-525.
-
(1984)
Can. J. Neurol. Sci.
, vol.11
, pp. 510-525
-
-
Barbeau, A.1
Roy, M.2
Cunha, L.3
De Vincente, A.N.4
Rosenberg, R.N.5
Nyhan, W.L.6
Macleod, P.L.7
Chazot, G.8
Langston, L.B.9
Dawson, D.M.10
Coutinho, P.11
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