-
1
-
-
17844389364
-
The wide spectrum of spinocerebellar ataxias (SCAs)
-
Manto, M.-U. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 4, 2-6 (2005).
-
(2005)
Cerebellum
, vol.4
, pp. 2-6
-
-
Manto, M.-U.1
-
2
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
Dueñas, A. M., Goold, R. & Giunti, P. Molecular pathogenesis of spinocerebellar ataxias. Brain 129, 1357-1370 (2006).
-
(2006)
Brain
, vol.129
, pp. 1357-1370
-
-
Dueñas, A.M.1
Goold, R.2
Giunti, P.3
-
3
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schöls, L., Bauer, P., Schmidt, T., Schulte, T. & Riess, O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 3, 291-304 (2004).
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schöls, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
4
-
-
35348877394
-
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
-
Martins, S., Calafell, F., Gaspar, C., Wong, V. C., Silveira, I., Nicholson, G. A. et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Arch. Neurol. 64, 1502-1508 (2007).
-
(2007)
Arch. Neurol
, vol.64
, pp. 1502-1508
-
-
Martins, S.1
Calafell, F.2
Gaspar, C.3
Wong, V.C.4
Silveira, I.5
Nicholson, G.A.6
-
5
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type I
-
Orr, H. T., Chung, M. Y., Banfi, S., Kwiatkowski, T. J. Jr, Servadio, A., Beaudet, A. L. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type I. Nat. Genet. 4, 221-226 (1993).
-
(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
-
6
-
-
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. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 14, 269-276 (1996).
-
(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
-
7
-
-
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. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8, 221-227 (1994).
-
(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
-
8
-
-
3042561985
-
Molecular architecture of CAG repeats in human disease related transcripts
-
Michlewski, G. & Krzyzosiak, W. J. Molecular architecture of CAG repeats in human disease related transcripts. J. Mol. Biol. 340, 665-679 (2004).
-
(2004)
J. Mol. Biol
, vol.340
, pp. 665-679
-
-
Michlewski, G.1
Krzyzosiak, W.J.2
-
9
-
-
16944364511
-
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion, 17, 65-70
-
David, G., Abbas, N., Stevanin, G., Dürr, A., Yvert, G., Cancel, G. et al. 1997. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat. Genet. 17, 65-70 (1997).
-
(1997)
Nat. Genet
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Dürr, A.4
Yvert, G.5
Cancel, G.6
-
10
-
-
0027297703
-
Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
-
Li, S.-H., McInnis, M. G., Margolis, R. L., Antonarakis, S. E. & Ross, C. A. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16, 572-579 (1993).
-
(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
-
11
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 6, 9-13 (1994).
-
(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
-
12
-
-
5344244656
-
-
Vienna, Austria: R Foundation for Statistical Computing , Available online atURL
-
R Development Core Team. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing (2008) (Available online atURL: http://www.R-project.org).
-
(2008)
R: A language and environment for statistical computing
-
-
-
13
-
-
0032377357
-
Approximate is better than 'exact' for interval estimation of binomial proportions
-
Agresti, A. & Coull, B. A. Approximate is better than 'exact' for interval estimation of binomial proportions. Am. Stat. 52, 119-126 (1998).
-
(1998)
Am. Stat
, vol.52
, pp. 119-126
-
-
Agresti, A.1
Coull, B.A.2
-
14
-
-
67649504977
-
-
Bureau of Registry Administration, Department of Provincial Administration. (Notification of the Bureau of Central Registry, Department of Provincial Administration, on the number of citizens throughout the Kingdom divided into the Bangkok Metropolis and each other province, according to the Citizen Registry documentation as of 31st December, B. E. 2550 (2007). Royal Gazette 125 (suppl 25 Ngor), 7-10 (2008) (in Thai).
-
Bureau of Registry Administration, Department of Provincial Administration. (Notification of the Bureau of Central Registry, Department of Provincial Administration, on the number of citizens throughout the Kingdom divided into the Bangkok Metropolis and each other province, according to the Citizen Registry documentation as of 31st December, B. E. 2550 (2007). Royal Gazette 125 (suppl 25 Ngor), 7-10 (2008) (in Thai).
-
-
-
-
15
-
-
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. et al. 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).
-
(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
-
16
-
-
4043134440
-
Clinical features of hereditary spinocerebellar ataxia diagnosed by molecular genetic analysis
-
Lau, K. K., Lam, K., Shiu, K. L., Au, K. M., Tsoi, T. H., Chan, A. Y. W. et al. Clinical features of hereditary spinocerebellar ataxia diagnosed by molecular genetic analysis. Hong Kong Med. J. 10, 255-259 (2004).
-
(2004)
Hong Kong Med. J
, vol.10
, pp. 255-259
-
-
Lau, K.K.1
Lam, K.2
Shiu, K.L.3
Au, K.M.4
Tsoi, T.H.5
Chan, A.Y.W.6
-
17
-
-
0034931901
-
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and molecular characterization of spinocerebellar ataxia type 6
-
Soong, B. W., Lu, Y. C., Choo, K. B. & Lee, H. Y. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and molecular characterization of spinocerebellar ataxia type 6. Arch. Neurol. 58, 1105-1109 (2001).
-
(2001)
Arch. Neurol
, vol.58
, pp. 1105-1109
-
-
Soong, B.W.1
Lu, Y.C.2
Choo, K.B.3
Lee, H.Y.4
-
18
-
-
2342467323
-
Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan
-
Tsai, H.-F., Liu, C.-S., Leu, T.-M., Wen, F.-C., Lin, S.-J., Liu, C.-C. et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol. Scand. 109, 355-360 (2004).
-
(2004)
Acta Neurol. Scand
, vol.109
, pp. 355-360
-
-
Tsai, H.-F.1
Liu, C.-S.2
Leu, T.-M.3
Wen, F.-C.4
Lin, S.-J.5
Liu, C.-C.6
-
19
-
-
0034061759
-
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
-
Saleem, Q., Choudhry, S., Mukerji, M., Bashyam, L., Padma, M. V., Chakravarthy, A. et al. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum. Genet. 106, 179-187 (2000).
-
(2000)
Hum. Genet
, vol.106
, pp. 179-187
-
-
Saleem, Q.1
Choudhry, S.2
Mukerji, M.3
Bashyam, L.4
Padma, M.V.5
Chakravarthy, A.6
-
20
-
-
0033934458
-
Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India
-
Basu, P., Chattopadhyay, B., Gangopadhaya, P. K., Mukherjee, S. C., Sinha, K. K., Das, S. K. et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum. Genet. 106, 597-604 (2000).
-
(2000)
Hum. Genet
, vol.106
, pp. 597-604
-
-
Basu, P.1
Chattopadhyay, B.2
Gangopadhaya, P.K.3
Mukherjee, S.C.4
Sinha, K.K.5
Das, S.K.6
-
21
-
-
1542616519
-
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India
-
Sinha, K. K., Worth, P. F., Jha, D. K., Sinha, S., Stinton, V. J., Davis, M. B. et al. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. J. Neurol. Neurosurg. Psychiatr. 75, 448-452 (2004).
-
(2004)
J. Neurol. Neurosurg. Psychiatr
, vol.75
, pp. 448-452
-
-
Sinha, K.K.1
Worth, P.F.2
Jha, D.K.3
Sinha, S.4
Stinton, V.J.5
Davis, M.B.6
-
22
-
-
43049162920
-
SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India
-
Krishna, N., Mohan, S., Yashavantha, B. S., Rammurthy, A., Kiran Kumar, H. B., Mittal, U. et al. SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India.. Indian J. Med. Res. 126, 465-470 (2007).
-
(2007)
Indian J. Med. Res
, vol.126
, pp. 465-470
-
-
Krishna, N.1
Mohan, S.2
Yashavantha, B.S.3
Rammurthy, A.4
Kiran Kumar, H.B.5
Mittal, U.6
-
23
-
-
0035198979
-
Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12
-
Srivastava, A. K., Choudhry, S., Gopinath, M. S., Roy, S., Tripathi, M., Brahmachari, S. K. et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann. Neurol. 50, 796-800 (2001).
-
(2001)
Ann. Neurol
, vol.50
, pp. 796-800
-
-
Srivastava, A.K.1
Choudhry, S.2
Gopinath, M.S.3
Roy, S.4
Tripathi, M.5
Brahmachari, S.K.6
-
24
-
-
0036193734
-
Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state
-
Chakravarty, A. & Mukherjee, S. C. Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state. Acta Neurol. Scand. 105, 202-208 (2002).
-
(2002)
Acta Neurol. Scand
, vol.105
, pp. 202-208
-
-
Chakravarty, A.1
Mukherjee, S.C.2
-
25
-
-
0036953712
-
Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore
-
Zhao, Y., Tan, E. K., Law, H. Y., Yoon, C. S., Wong, M. C. & Ng, I. Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. Clin. Genet. 62, 478-481 (2002).
-
(2002)
Clin. Genet
, vol.62
, pp. 478-481
-
-
Zhao, Y.1
Tan, E.K.2
Law, H.Y.3
Yoon, C.S.4
Wong, M.C.5
Ng, I.6
-
26
-
-
17744372852
-
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
-
Su, B., Xiao, C., Deka, R., Seielstad, M. T., Kangwanpong, D., Xiao, J. et al. Y chromosome haplotypes reveal prehistorical migrations to the Himalayas. Hum. Genet. 107, 582-590 (2000).
-
(2000)
Hum. Genet
, vol.107
, pp. 582-590
-
-
Su, B.1
Xiao, C.2
Deka, R.3
Seielstad, M.T.4
Kangwanpong, D.5
Xiao, J.6
-
27
-
-
10744228209
-
Ethnic India: A genomic view, with special reference to peopling and structure
-
Basu, A., Mukherjee, N., Roy, S., Sengupta, S., Banerjee, S., Chakraborty, M. et al. Ethnic India: a genomic view, with special reference to peopling and structure. Genome Res. 13, 2277-2290 (2003).
-
(2003)
Genome Res
, vol.13
, pp. 2277-2290
-
-
Basu, A.1
Mukherjee, N.2
Roy, S.3
Sengupta, S.4
Banerjee, S.5
Chakraborty, M.6
-
28
-
-
3242811372
-
The northeast Indian passageway: A barrier or corridor for human migrations?
-
Cordaux, R., Weiss, G., Saha, N. & Stoneking, M. The northeast Indian passageway: a barrier or corridor for human migrations? Mol. Biol. Evol. 21, 1525-1533 (2004).
-
(2004)
Mol. Biol. Evol
, vol.21
, pp. 1525-1533
-
-
Cordaux, R.1
Weiss, G.2
Saha, N.3
Stoneking, M.4
-
29
-
-
33746428394
-
Genetic structure of Indian populations based on fifteen autosomal microsatellite loci
-
Kashyap, V. K., Guha, S., Sitalaximi, T., Bindu, G. H., Hasnain, S. E. & Trivedi, R. Genetic structure of Indian populations based on fifteen autosomal microsatellite loci. BMC Genet. 7, 28 (2006).
-
(2006)
BMC Genet
, vol.7
, pp. 28
-
-
Kashyap, V.K.1
Guha, S.2
Sitalaximi, T.3
Bindu, G.H.4
Hasnain, S.E.5
Trivedi, R.6
-
30
-
-
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. et al. 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).
-
(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
-
31
-
-
13144294027
-
Genetic relationship of populations in China
-
Chu, J. Y., Huang, W., Kuang, S. Q., Wang, J. M., Xu, J. J., Chu, Z. T. et al. Genetic relationship of populations in China. Proc. Natl Acad. Sci. USA 95, 11763-11768 (1998).
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 11763-11768
-
-
Chu, J.Y.1
Huang, W.2
Kuang, S.Q.3
Wang, J.M.4
Xu, J.J.5
Chu, Z.T.6
-
32
-
-
0036461065
-
Three major lineages of Asian Y chromosomes: Implications for the peopling of east and southeast Asia
-
Tajima, A., Pang, I.-H., Fucharoen, G., Fucharoen, S., Matsuo, M., Tokunaga, K. et al. Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia. Hum. Genet. 110, 80-88 (2002).
-
(2002)
Hum. Genet
, vol.110
, pp. 80-88
-
-
Tajima, A.1
Pang, I.-H.2
Fucharoen, G.3
Fucharoen, S.4
Matsuo, M.5
Tokunaga, K.6
-
33
-
-
33750933354
-
Phylogeography and ethnogenesis of aboriginal Southeast Asians
-
Hill, C., Soares, P., Mormina, M., Macaulay, V., Meehan, W., Blackburn, J. et al. Phylogeography and ethnogenesis of aboriginal Southeast Asians. Mol. Biol. Evol. 23, 2480-2491 (2006).
-
(2006)
Mol. Biol. Evol
, vol.23
, pp. 2480-2491
-
-
Hill, C.1
Soares, P.2
Mormina, M.3
Macaulay, V.4
Meehan, W.5
Blackburn, J.6
-
35
-
-
33750964651
-
The origins and dispersals of agricultural communities in Southeast Asia
-
eds Glover, I. & Bellwood, P, RoutledgeCurzon, New York
-
Bellwood, P. The origins and dispersals of agricultural communities in Southeast Asia. In Southeast Asia: From Prehistory to History (eds Glover, I. & Bellwood, P.) 21-40 (RoutledgeCurzon, New York, 2004).
-
(2004)
Southeast Asia: From Prehistory to History
, pp. 21-40
-
-
Bellwood, P.1
-
36
-
-
67649486446
-
-
Bellina, B. & Glover, I. The archaeology of early contact with India and the Mediterranean world, from the fourth century BC to the fourth century AD. In Southeast Asia: From Prehistory to History (eds Glover, I. & Bellwood, P.) 68-88 (RoutledgeCurzon, New York, 2004).
-
Bellina, B. & Glover, I. The archaeology of early contact with India and the Mediterranean world, from the fourth century BC to the fourth century AD. In Southeast Asia: From Prehistory to History (eds Glover, I. & Bellwood, P.) 68-88 (RoutledgeCurzon, New York, 2004).
-
-
-
|