-
1
-
-
0028169738
-
-
7: 521-524
-
Burke JR. Wingfield MS. Lewis KE, Ross AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM (1994): The Haw river syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet 7: 521-524
-
Wingfield MS. Lewis KE, Ross AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM (1994): the Haw River Syndrome: Dentatorubropallidoluysian Atrophy (DRPLA) in an African-American Family. Nature Genet
-
-
Burke, J.R.1
-
4
-
-
0027162192
-
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet 4: 295-299
-
Gispert S, Twells R, Orozco G, Brice A. Weber J, Heredero L. Scheufler K, Riley B. Allotey R. Nothers C. Hillermann R, Lunkes A, Khali C. Stevanin G, Hernandez A, Magarifio C. Klockgether T. Durr A. Chneiweiss H. Enczmann J, Farrall M. Beckmann J, Mullan M. Wernet P. Agid Y. Freund H-J, Williamson R. Auburger G, Chamberlain S (1993): Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet 4: 295-299
-
Twells R, Orozco G, Brice A. Weber J, Heredero L. Scheufler K, Riley B. Allotey R. Nothers C. Hillermann R, Lunkes A, Khali C. Stevanin G, Hernandez A, Magarifio C. Klockgether T. Durr A. Chneiweiss H. Enczmann J, Farrall M. Beckmann J, Mullan M. Wernet P. Agid Y. Freund H-J, Williamson R. Auburger G, Chamberlain S (1993)
-
-
Gispert, S.1
-
7
-
-
0029044667
-
-
37: 769-775
-
Ikeuchi T. Koide R, Tanaka H. Onodera O, Igarashi S. Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T, Sato K, lhara Y, Hayabara T, Isa F, Tanabe H. Tokiguchi S. Hayashi M, Shimizu N, Ikuta F. Naito H, Tsuji S (1995): Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37: 769-775
-
Koide R, Tanaka H. Onodera O, Igarashi S. Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T, Sato K, Lhara Y, Hayabara T, Isa F, Tanabe H. Tokiguchi S. Hayashi M, Shimizu N, Ikuta F. Naito H, Tsuji S (1995): Dentatorubral-pallidoluysian Atrophy: Clinical Features Are Closely Related to Unstable Expansions of Trinucleotide (CAG) Repeat. Ann Neurol
-
-
Ikeuchi, T.1
-
9
-
-
0028143527
-
-
8: 221 228
-
Kavvaguchi 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 (1994): CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8: 221 228
-
Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S. Kawakami H, Nakamura S. Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka a (1994): CAG Expansions in a Novel Gene for Machado-Joseph Disease at Chromosome 14q32.1. Nature Genet
-
-
Kavvaguchi, Y.1
-
10
-
-
0028216760
-
-
6: 9 13
-
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). Nature Genet 6: 9 13
-
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). Nature Genet
-
-
Koide, R.1
-
11
-
-
0028815025
-
-
45: 143 149
-
Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N. Takahashi M. Murayama N, Kondo I, Nagafuchi S, Yamada M, Kanazawa I (1995): DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45: 143 149
-
Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N. Takahashi M. Murayama N, Kondo I, Nagafuchi S, Yamada M, Kanazawa I (1995): DNA Analysis in Hereditary Dentatorubral-pallidoluysian Atrophy: Correlation between CAG Repeat Length and Phenotypic Variation and the Molecular Basis of Anticipation. Neurology
-
-
Komure, O.1
-
12
-
-
0027297703
-
-
16: 572-579
-
Li S-H. Mclnnis MG, Margolis RL, Antonarakis SE, Ross ÇA (1993): Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms. Genomics 16: 572-579
-
Mclnnis MG, Margolis RL, Antonarakis SE, Ross ÇA (1993): Novel Triplet Repeat Containing Genes in Human Brain: Cloning, Expression, and Length Polymorphisms. Genomics
-
-
Li, S.-H.1
-
13
-
-
0029047109
-
-
57: 54-61
-
Maciel P. Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J. Dawson DM, Sudarsky L. Guimaraes J. Loureiro JEL, Nezarati MM. Corwin LI. Lopes-Cendes I, Rooke K, Rosenberg R. MacLeod P. Farrer LA, Sequeiros J, Rouleau G A ( 1995): Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 57: 54-61
-
Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J. Dawson DM, Sudarsky L. Guimaraes J. Loureiro JEL, Nezarati MM. Corwin LI. Lopes-Cendes I, Rooke K, Rosenberg R. MacLeod P. Farrer LA, Sequeiros J, Rouleau G a ( 1995): Correlation between CAG Repeat Length and Clinical Features in Machado-Joseph Disease. Am J Hum Genet
-
-
Maciel, P.1
-
14
-
-
0029042742
-
-
4: 807-812
-
Maruyama H, Nakamura S, Matsuyama Z. Sakai T, Doyu M, Sobue G, Seto M, Tsujihata M, Oh-i T, Nishio T, Sunohara N, Takahashi R. Hayashi M, Nishino I, Ohtake T, Oda T, Nishimura M, Saida T, Matsumoto H, Baba M, Kawaguchi Y, Kakizuka A, Kawakami H ( 1995): Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 4: 807-812
-
Nakamura S, Matsuyama Z. Sakai T, Doyu M, Sobue G, Seto M, Tsujihata M, Oh-i T, Nishio T, Sunohara N, Takahashi R. Hayashi M, Nishino I, Ohtake T, Oda T, Nishimura M, Saida T, Matsumoto H, Baba M, Kawaguchi Y, Kakizuka A, Kawakami H ( 1995): Molecular Features of the CAG Repeats and Clinical Manifestation of Machado-Joseph Disease. Hum Mol Genet
-
-
Maruyama, H.1
-
15
-
-
0030200658
-
-
139: 52-57
-
Matsumura R, Takayanagi T, Fujimoto Y, Murata K. Mano Y, Horikawa H, Chuma T (1996): The relationship between trinucleotide repeat length and phenotypic variation in MachadoJoseph disease. J Neurol Sei 139: 52-57
-
Takayanagi T, Fujimoto Y, Murata K. Mano Y, Horikawa H, Chuma T (1996): the Relationship between Trinucleotide Repeat Length and Phenotypic Variation in MachadoJoseph Disease. J Neurol Sei
-
-
Matsumura, R.1
-
16
-
-
0028335386
-
-
6: 14-18
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama E, 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, Yamada M (1994): Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6: 14-18
-
Yanagisawa H, Sato K, Shirayama E, 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, Yamada M (1994): Dentatorubral and Pallidoluysian Atrophy Expansion of an Unstable CAG Trinucleotide on Chromosome 12p. Nature Genet
-
-
Nagafuchi, S.1
-
17
-
-
0027164698
-
-
4: 221-226
-
Orr HY, Chung M, Banfi S, Kwiatkowski TJ Jr. Servadio A, Beaudet AE, McCall AE, Duvick EA, Ranum EPW, Zoghbi HY (1993): Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4: 221-226
-
Chung M, Banfi S, Kwiatkowski TJ Jr. Servadio A, Beaudet AE, McCall AE, Duvick EA, Ranum EPW, Zoghbi HY (1993): Expansion of an Unstable Trinucleotide CAG Repeat in Spinocerebellar Ataxia Type 1. Nature Genet
-
-
Orr, H.Y.1
-
19
-
-
0029134871
-
-
57: 603-608
-
Ranum EPW, Eundgren JK. Schut EJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT (1995): Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 57: 603-608
-
Eundgren JK. Schut EJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT (1995): Spinocerebellar Ataxia Type 1 and Machado-Joseph Disease: Incidence of CAG Expansions among Adult-onset Ataxia Patients from 311 Families with Dominant, Recessive, or Sporadic Ataxia. Am J Hum Genet
-
-
Ranum, E.P.W.1
-
21
-
-
9344245162
-
-
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 46: 214-218
-
Silveira I, Eopes-Cendes I, Kish S, Maciel P, Gasper C, Coutinho P, Botez ME Teive H, Arruda W, Steiner CE, Pinto-Junior W, Maciel JA, Jain S, Sack G, Andermann E, Sudarsky E, Rosenberg R, MacEeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA ( 1996): Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 46: 214-218
-
Eopes-Cendes I, Kish S, Maciel P, Gasper C, Coutinho P, Botez ME Teive H, Arruda W, Steiner CE, Pinto-Junior W, Maciel JA, Jain S, Sack G, Andermann E, Sudarsky E, Rosenberg R, MacEeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA ( 1996)
-
-
Silveira, I.1
-
22
-
-
0028938117
-
-
40: 131-143
-
Suzuki Y, Sasaki H, Wakisaka A, Takada A, Yoshiki T, Iwabuchi K, Tashiro K, Fukazawa T, Hamada T (1995): Spinocerebellar ataxia l (SCA1) in the Japanese: Analysis of CAG trinucleotide repeat expansion and instability of the repeat for paternal transmission. Jpn J Human Genet 40: 131-143
-
Sasaki H, Wakisaka A, Takada A, Yoshiki T, Iwabuchi K, Tashiro K, Fukazawa T, Hamada T (1995): Spinocerebellar Ataxia L (SCA1) in the Japanese: Analysis of CAG Trinucleotide Repeat Expansion and Instability of the Repeat for Paternal Transmission. Jpn J Human Genet
-
-
Suzuki, Y.1
-
23
-
-
0029009456
-
-
Evidence for inter-generational instability in the CAG repeat in the MJDl gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4: 1137-1146
-
Takiyama Y, Igarashi S, Rogaeva EA, Kondo K, Rogaev El, Tanaka H, Sherrington R, Sanpei K, Eiang Y, Saito M, Tsuda T, Takano H, Ikeda M, Ein C, Chi H, Kennedy JE, Eang AE, Wherrett JR, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M. Kidd KK, Tsuji S, St George-Hyslop PH (1995): Evidence for inter-generational instability in the CAG repeat in the MJDl gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4: 1137-1146
-
Igarashi S, Rogaeva EA, Kondo K, Rogaev El, Tanaka H, Sherrington R, Sanpei K, Eiang Y, Saito M, Tsuda T, Takano H, Ikeda M, Ein C, Chi H, Kennedy JE, Eang AE, Wherrett JR, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M. Kidd KK, Tsuji S, St George-Hyslop PH (1995)
-
-
Takiyama, Y.1
-
24
-
-
0028911758
-
-
32: 25-31
-
Twist EC, Casaubon EK, Ruttledge MH, Rao VS, Macleod PM, Radvany J, Zhao Z, Rosenberg RN, Farrer EA, Rouleau GA (1995): Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet 32: 25-31
-
Casaubon EK, Ruttledge MH, Rao VS, Macleod PM, Radvany J, Zhao Z, Rosenberg RN, Farrer EA, Rouleau GA (1995): Machado-Joseph Disease Maps to the Same Region of Chromosome 14 as the Spinocerebellar Ataxia Type 3 Locus. J Med Genet
-
-
Twist, E.C.1
-
25
-
-
0029121944
-
-
32: 590-592
-
Wakisaka A, Sasaki H, Takada A, Fukazawa T, Suzuki Y, Hamada T, Iwabuchi K, Tashiro K. Yoshiki T (1995): Spinocerebellar ataxia 1 (SCAI) in the Japanese in Hokkaido may derive from a single common ancestry. J Med Genet 32: 590-592
-
Sasaki H, Takada A, Fukazawa T, Suzuki Y, Hamada T, Iwabuchi K, Tashiro K. Yoshiki T (1995): Spinocerebellar Ataxia 1 (SCAI) in the Japanese in Hokkaido May Derive from a Single Common Ancestry. J Med Genet
-
-
Wakisaka, A.1
-
26
-
-
0028958153
-
-
37: 452-459
-
Warner TT, Williams ED, Walker RWH, Flinter F, Robb SA, Bundey SE, Honavar M, Harding AE (1995): A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol 37: 452-459
-
Williams ED, Walker RWH, Flinter F, Robb SA, Bundey SE, Honavar M, Harding AE (1995): a Clinical and Molecular Genetic Study of Dentatorubropallidoluysian Atrophy in Four European Families. Ann Neurol
-
-
Warner, T.T.1
|