-
1
-
-
24944562052
-
Evidence of a common founder for SCA12 in the Indian population
-
DOI 10.1046/j.1529-8817.2005.00173.x
-
Bahl S, Virdi K, Mittal U, Sachdeva MP, Kalla AK, Holmes SE, O'Hearn E, Margolis RL, Jain S, Srivastava AK, Mukerji M. 2005. Evidence of a common founder for SCA12 in the Indian population. Ann Hum Genet 69(Pt 5):528-534. (Pubitemid 41309430)
-
(2005)
Annals of Human Genetics
, vol.69
, Issue.5
, pp. 528-534
-
-
Bahl, S.1
Virdi, K.2
Mittal, U.3
Sachdeva, M.P.4
Kalla, A.K.5
Holmes, S.E.6
O'Hearn, E.7
Margolis, R.L.8
Jain, S.9
Srivastava, A.K.10
Mukerji, M.11
-
2
-
-
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
-
DOI 10.1007/s004390050031
-
Basu P, Chattopadhyay B, Gangopadhaya PK, Mukherjee SC, Sinha KK, Das SK, Roychoudhury S, Majumder PP, Bhattacharyya NP. 2000. 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. (Pubitemid 30427013)
-
(2000)
Human Genetics
, vol.106
, Issue.6
, 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
Roychoudhury, S.7
Majumder, P.P.8
Bhattacharyya, N.P.9
-
3
-
-
30344475206
-
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2
-
DOI 10.1093/brain/awh651
-
Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A. 2006. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 129(Pt 1):235-242. (Pubitemid 43063774)
-
(2006)
Brain
, vol.129
, Issue.1
, pp. 235-242
-
-
Cagnoli, C.1
Mariotti, C.2
Taroni, F.3
Seri, M.4
Brussino, A.5
Michielotto, C.6
Grisoli, M.7
Di Bella, D.8
Migone, N.9
Gellera, C.10
Di Donato, S.11
Brusco, A.12
-
4
-
-
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, and others. 1996. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 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
-
5
-
-
0036193734
-
Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - An eastern Indian state
-
DOI 10.1034/j.1600-0404.2002.1o054.x
-
Chakravarty A, Mukherjee SC. 2002. Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal-an Eastern Indian state. Acta Neurol Scand 105:202-208. (Pubitemid 34258962)
-
(2002)
Acta Neurologica Scandinavica
, vol.105
, Issue.3
, pp. 202-208
-
-
Chakravarty, A.1
Mukherjee, S.C.2
-
6
-
-
0037385006
-
Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
DOI 10.1086/373883
-
Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. 2003. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849. (Pubitemid 36403304)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.4
, pp. 839-849
-
-
Chen, D.-H.1
Brkanac, Z.2
Verlinde, C.L.M.J.3
Tan, X.-J.4
Bylenok, L.5
Nochlin, D.6
Matsushita, M.7
Lipe, H.8
Wolff, J.9
Fernandez, M.10
Cimino, P.J.11
Bird, T.D.12
Raskind, W.H.13
-
7
-
-
0035504107
-
CAG repeat instability at SCA2 locus: Anchoring CAA interruptions and linked single nucleotide polymorphisms
-
Choudhry S, Mukerji M, Srivastava AK, Jain S, Brahmachari SK. 2001. CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms. Hum Mol Genet 10:2437-2446. (Pubitemid 33069549)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.21
, pp. 2437-2446
-
-
Choudhry, S.1
Mukerji, M.2
Srivastava, A.K.3
Jain, S.4
Brahmachari, S.K.5
-
8
-
-
0037677603
-
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
-
DOI 10.1093/brain/awg130
-
Chung MY, Lu YC, Cheng NC, Soong BW. 2003. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain 126(Pt 6):1293-1299. (Pubitemid 36644376)
-
(2003)
Brain
, vol.126
, Issue.6
, pp. 1293-1299
-
-
Chung, M.-Y.1
Lu, Y.-C.2
Cheng, N.-C.3
Soong, B.-W.4
-
9
-
-
0030739437
-
Evolution of the friedreich''s ataxia trinucleotide repeat expansion: Founder effect and premutations
-
DOI 10.1073/pnas.94.14.7452
-
Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M. 1997. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 94:7452-7457. (Pubitemid 27345336)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.14
, pp. 7452-7457
-
-
Cossee, M.1
Schmitt, M.2
Campuzano, V.3
Reutenauer, L.4
Moutou, C.5
Mandel, J.L.6
Koenig, M.7
-
10
-
-
0034578144
-
Trinucleotide repeats: Mechanisms and pathophysiology
-
Cummings CJ, Zoghbi HY. 2000. Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet 1:281-328.
-
(2000)
Annu Rev Genomics Hum Genet
, vol.1
, pp. 281-328
-
-
Cummings, C.J.1
Zoghbi, H.Y.2
-
11
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
DOI 10.1038/ng0997-65
-
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. 1997. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70. (Pubitemid 27377533)
-
(1997)
Nature Genetics
, vol.17
, Issue.1
, 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
-
12
-
-
0035936608
-
Clinical features and genetic analysis of a new form of spinocerebellar ataxia
-
Devos D, Schraen-Maschke S, Vuillaume I, Dujardin K, Naze P, Willoteaux C, Destee A, Sablonniere B. 2001. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 56:234-238. (Pubitemid 32095366)
-
(2001)
Neurology
, vol.56
, Issue.2
, pp. 234-238
-
-
Devos, D.1
Schraen-Maschke, S.2
Vuillaume, I.3
Dujardin, K.4
Naze, P.5
Willoteaux, C.6
Destee, A.7
Sablonniere, B.8
-
13
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
DOI 10.1093/brain/awl081
-
Duenas AM, Goold R, Giunti P. 2006. Molecular pathogenesis of spinocerebellar ataxias. Brain 129(Pt 6):1357-1370. (Pubitemid 43999370)
-
(2006)
Brain
, vol.129
, Issue.6
, pp. 1357-1370
-
-
Duenas, A.M.1
Goold, R.2
Giunti, P.3
-
14
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
DOI 10.1038/ng0994-88
-
Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL. 1994. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88-94. (Pubitemid 24274066)
-
(1994)
Nature Genetics
, vol.8
, Issue.1
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.A.2
Popovich, B.W.3
Reiss, A.L.4
Snow, K.5
Thibodeau, S.N.6
Richards, C.S.7
Ward, P.A.8
Nelson, D.L.9
-
15
-
-
8144228406
-
Trinucleotide repeats and neurodegenerative disease
-
DOI 10.1093/brain/awh278
-
Everett CM, Wood NW. 2004. Trinucleotide repeats and neurodegenerative disease. Brain 127(Pt 11):2385-2405. (Pubitemid 39472967)
-
(2004)
Brain
, vol.127
, Issue.11
, pp. 2385-2405
-
-
Everett, C.M.1
Wood, N.W.2
-
16
-
-
0029792130
-
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
-
Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ. 1996. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59:392-399. (Pubitemid 26266355)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.2
, pp. 392-399
-
-
Flanigan, K.1
Gardner, K.2
Alderson, K.3
Galster, B.4
Otterud, B.5
Leppert, M.F.6
Kaplan, C.7
Ptacek, L.J.8
-
17
-
-
22844452823
-
LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
-
Fokkema IF, den Dunnen JT, Taschner PE. 2005. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 26:63-68.
-
(2005)
Hum Mutat
, vol.26
, pp. 63-68
-
-
Fokkema, I.F.1
Den Dunnen, J.T.2
Taschner, P.E.3
-
18
-
-
0035115573
-
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
-
DOI 10.1002/1531-8249(200101)49:1<117::AID-ANA19>3.0.CO;2-G
-
Fujigasaki H, Verma IC, Camuzat A, Margolis RL, Zander C, Lebre AS, Jamot L, Saxena R, Anand I, Holmes SE, Ross CA, Dürr A, Brice A. 2001. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann Neurol 49:117-121. (Pubitemid 32163015)
-
(2001)
Annals of Neurology
, vol.49
, Issue.1
, pp. 117-121
-
-
Fujigasaki, H.1
Verma, I.C.2
Camuzat, A.3
Margolis, R.L.4
Zander, C.5
Lebre, A.-S.6
Jamot, L.7
Saxena, R.8
Anand, I.9
Holmes, S.E.10
Ross, C.A.11
Durr, A.12
Brice, A.13
-
19
-
-
0035125109
-
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
-
DOI 10.1086/318184
-
Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. 2001. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am J Hum Genet 68:523-528. (Pubitemid 32147823)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.2
, pp. 523-528
-
-
Gaspar, C.1
Lopes-Cendes, I.2
Hayes, S.3
Goto, J.4
Arvidsson, K.5
Dias, A.6
Silveira, I.7
Maciel, P.8
Coutinho, P.9
Lima, M.10
Zhou, Y.-X.11
Soong, B.-W.12
Watanabe, M.13
Giunti, P.14
Stevanin, G.15
Riess, O.16
Sasaki, H.17
Hsieh, M.18
Nicholson, G.A.19
Brunt, E.20
Higgins, J.J.21
Lauritzen, M.22
Tranebjaerg, L.23
Volpini, V.24
Wood, N.25
Ranum, L.26
Tsuji, S.27
Brice, A.28
Sequeiros, J.29
Rouleau, G.A.30
more..
-
20
-
-
10744232588
-
Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus
-
Hara K, Fukushima T, Suzuki T, Shimohata T, Oyake M, Ishiguro H, Hirota K, Miyashita A, Kuwano R, Kurisaki H, Yomono H, Goto J, Kanazawa I, Tsuji S. 2004. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Neurology 62:648-651. (Pubitemid 38252814)
-
(2004)
Neurology
, vol.62
, Issue.4
, pp. 648-651
-
-
Hara, K.1
Fukushima, T.2
Suzuki, T.3
Shimohata, T.4
Oyake, M.5
Ishiguro, H.6
Hirota, K.7
Miyashita, A.8
Kuwano, R.9
Kurisaki, H.10
Yomono, H.11
Goto, J.12
Kanazawa, I.13
Tsuji, S.14
-
21
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE. 1993. Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14.
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
22
-
-
2442644097
-
Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease [2]
-
DOI 10.1136/jnnp.2003.028381
-
Hellenbroich Y, Schulz-Schaeffer W, Nitschke MF, Kohnke J, Handler G, Burk K, Schwinger E, Zuhlke C. 2004. Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease. J Neurol Neurosurg Psychiatry 75:937-938. (Pubitemid 38658530)
-
(2004)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.75
, Issue.6
, pp. 937-938
-
-
Hellenbroich, Y.1
Schulz-Schaeffer, W.2
Nitschke, M.F.3
Kohnke, J.4
Handler, G.5
Burk, K.6
Schwinger, E.7
Zuhlke, C.8
-
23
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 50 region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL. 1999. Expansion of a novel CAG trinucleotide repeat in the 50 region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392.
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
Gorelick-Feldman, D.A.4
Kleiderlein, J.J.5
Callahan, C.6
Kwak, N.G.7
Ingersoll-Ashworth, R.G.8
Sherr, M.9
Sumner, A.J.10
Sharp, A.H.11
Ananth, U.12
Seltzer, W.K.13
Boss, M.A.14
Vieria-Saecker, A.M.15
Epplen, J.T.16
Riess, O.17
Ross, C.A.18
Margolis, R.L.19
-
24
-
-
31744441984
-
Spectrin mutations cause spinocerebellar ataxia type 5
-
DOI 10.1038/ng1728, PII NG1728
-
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. 2006. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 38:184-190. (Pubitemid 43177231)
-
(2006)
Nature Genetics
, vol.38
, Issue.2
, pp. 184-190
-
-
Ikeda, Y.1
Dick, K.A.2
Weatherspoon, M.R.3
Gincel, D.4
Armbrust, K.R.5
Dalton, J.C.6
Stevanin, G.7
Durr, A.8
Zuhlke, C.9
Burk, K.10
Clark, H.B.11
Brice, A.12
Rothstein, J.D.13
Schut, L.J.14
Day, J.W.15
Ranum, L.P.W.16
-
25
-
-
0030294345
-
Cloning of the gene for spinooerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A. 1996. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291. (Pubitemid 126449762)
-
(1996)
Nature Genetics
, vol.14
, Issue.3
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.-M.6
Weber, C.7
Mandel, J.-L.8
Cancel, G.9
Abbas, N.10
Durr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
26
-
-
44149107150
-
Genetic landscape of the people of India: A canvas for disease gene exploration
-
DOI 10.1007/s12041-008-0002-x
-
Indian Genome Variation Consortium. 2008. Genetic landscape of the people of India: a canvas for disease gene exploration. J Genet 87:3-20. (Pubitemid 351716884)
-
(2008)
Journal of Genetics
, vol.87
, Issue.1
, pp. 3-20
-
-
Brahmachari, S.K.1
Majumder, P.P.2
Mukerji, M.3
Habib, S.4
Dash, D.5
Ray, K.6
Bahl, S.7
Singh, L.8
Sharma, A.9
Roychoudhury, S.10
Chandak, G.R.11
Thangaraj, K.12
Parmar, D.13
Sengupta, S.14
Bharadwaj, D.15
Rath, S.K.16
Singh, J.17
Jha, G.N.18
Virdi, K.19
Rao, V.R.20
Sinha, S.21
Singh, A.22
Mitra, A.K.23
Mishra, S.K.24
Pasha, Q.25
Sivasubbu, S.26
Pandey, R.27
Baral, A.28
Singh, P.K.29
Sharma, A.30
Kumar, J.31
Stobdan, T.32
Bhasin, Y.33
Chauhan, C.34
Hussain, A.35
Sundaramoorthy, E.36
Singh, S.P.37
Bandyopadhyay, A.38
Dasgupta, K.39
Reddy, A.K.40
Spurgeon, C.J.41
Idris, M.M.42
Khanna, V.43
Dhawan, A.44
Anand, M.45
Shankar, R.46
Bharti, R.S.47
Singh, M.48
Singh, A.P.49
Khan, A.J.50
Shah, P.P.51
Pant, A.B.52
Bharti, R.S.53
Kaur, R.54
Bisht, K.K.55
Kumar, A.56
Rajamanickam, V.57
Wilson, E.58
Thangadurai, A.59
Jha, P.K.60
Maulik, M.61
Makhija, N.62
Rahim, A.63
Sharma, S.64
Chopra, R.65
Rana, P.66
Chidambaram, M.67
Maitra, A.68
Chawla, R.69
Soni, S.70
Khurana, P.71
Khan, M.N.72
Sutar, S.D.73
Tuteja, A.74
Narayansamy, K.75
Shukla, R.76
Prakash, S.77
Mahurkar, S.78
Mani, K.R.79
Hemavathi, J.80
Bhaskar, S.81
Khanna, P.82
Ramalakshmi, G.S.83
Tripathi, S.M.84
Thakur, N.85
Ghosh, B.86
Kukreti, R.87
Madan, T.88
Verma, R.89
Sudheer, G.90
Mahajan, A.91
Chavali, S.92
Tabassum, R.93
Grover, S.94
Gupta, M.95
Batra, J.96
Kumar, A.97
Nejatizadeh, A.98
Vaid, M.99
more..
-
27
-
-
0033776246
-
Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia [3]
-
DOI 10.1007/s004150070117
-
Katayama T, Ogura Y, Aizawa H, Kuroda H, Suzuki Y, Kuroda K, Kikuchi K. 2000. Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia. J Neurol 247:711-712. (Pubitemid 30781340)
-
(2000)
Journal of Neurology
, vol.247
, Issue.9
, pp. 711-712
-
-
Katayama, T.1
Ogura, Y.2
Aizawa, H.3
Kuroda, H.4
Suzuki, Y.5
Kuroda, K.6
Kikuchi, K.7
-
28
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
DOI 10.1038/ng1194-221
-
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. 1994. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228. (Pubitemid 24338732)
-
(1994)
Nature Genetics
, vol.8
, Issue.3
, 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
-
29
-
-
2442527917
-
Dominantly inherited ataxia and dysphonia with dentate calcification: Spinocerebellar ataxia type 20
-
DOI 10.1093/brain/awh139
-
Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E. 2004. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127(Pt 5):1172-1181. (Pubitemid 38623050)
-
(2004)
Brain
, vol.127
, Issue.5
, pp. 1172-1181
-
-
Knight, M.A.1
Gardner, R.J.M.2
Bahlo, M.3
Matsuura, T.4
Dixon, J.A.5
Forrest, S.M.6
Storey, E.7
-
30
-
-
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, and others. 1994. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13.
-
(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
-
31
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
DOI 10.1038/7710
-
Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. 1999. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384. (Pubitemid 29159573)
-
(1999)
Nature Genetics
, vol.21
, Issue.4
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
Benzow, K.A.4
Bird, T.D.5
Day, J.W.6
Ranum, L.P.W.7
-
32
-
-
43049162920
-
SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India
-
Krishna N, Mohan S, Yashavantha BS, Rammurthy A, Kiran Kumar HB, Mittal U, Tyagi S, Mukerji M, Jain S, Pal PK, Purushottam M. 2007. SCA 1, SCA 2 and SCA 3/MJD mutations in ataxia syndromes in southern India. Indian J Med Res 126:465-470. (Pubitemid 351663604)
-
(2007)
Indian Journal of Medical Research
, vol.126
, Issue.5
, pp. 465-470
-
-
Krishna, N.1
Mohan, S.2
Yashavantha, B.S.3
Rammurthy, A.4
Kiran Kumar, H.B.5
Mittal, U.6
Tyagi, S.7
Mukerji, M.8
Jain, S.9
Pal, P.K.10
Purushottam, M.11
-
33
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
DOI 10.1038/79911
-
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. 2000. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194. (Pubitemid 30764501)
-
(2000)
Nature Genetics
, vol.26
, Issue.2
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
Rasmussen, A.4
Grewal, R.P.5
Watase, K.6
Khajavi, M.7
McCall, A.E.8
Davis, C.F.9
Zu, L.10
Achari, M.11
Pulst, S.M.12
Alonso, E.13
Noebels, J.L.14
Nelson, D.L.15
Zoghbi, H.Y.16
Ashizawa, T.17
-
34
-
-
29244440698
-
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: Repeat purity as a disease modifier?
-
Matsuura T, Fang P, Pearson CE, Jayakar P, Ashizawa T, Roa BB, Nelson DL. 2006. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet 78:125-129.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 125-129
-
-
Matsuura, T.1
Fang, P.2
Pearson, C.E.3
Jayakar, P.4
Ashizawa, T.5
Roa, B.B.6
Nelson, D.L.7
-
35
-
-
17844404576
-
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: Evidence from an Indian family
-
DOI 10.1007/s10038-005-0233-0
-
Mittal U, Roy S, Jain S, Srivastava AK, Mukerji M. 2005a. Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. J Hum Genet 50:155-157. (Pubitemid 40591400)
-
(2005)
Journal of Human Genetics
, vol.50
, Issue.3
, pp. 155-157
-
-
Mittal, U.1
Roy, S.2
Jain, S.3
Srivastava, A.K.4
Mukerji, M.5
-
36
-
-
33744726564
-
Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms
-
Mittal U, Sharma S, Chopra R, Dheeraj K, Pal PK, Srivastava AK, Mukerji M. 2005b. Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms. Hum Genet 118:107-114.
-
(2005)
Hum Genet
, vol.118
, pp. 107-114
-
-
Mittal, U.1
Sharma, S.2
Chopra, R.3
Dheeraj, K.4
Pal, P.K.5
Srivastava, A.K.6
Mukerji, M.7
-
37
-
-
0035838438
-
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
-
Miyoshi Y, Yamada T, Tanimura M, Taniwaki T, Arakawa K, Ohyagi Y, Furuya H, Yamamoto K, Sakai K, Sasazuki T, Kira J. 2001. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 57:96-100. (Pubitemid 32634856)
-
(2001)
Neurology
, vol.57
, Issue.1
, pp. 96-100
-
-
Miyoshi, Y.1
Yamada, T.2
Tanimura, M.3
Taniwaki, T.4
Arakawa, K.5
Ohyagi, Y.6
Furuya, H.7
Yamamoto, K.8
Sakai, K.9
Sasazuki, T.10
Kira, J.11
-
38
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I. 2001. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441-1448. (Pubitemid 32684885)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.14
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.-Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
Ikeda, S.-I.7
Tsuji, S.8
Kanazawa, I.9
-
39
-
-
0032718032
-
Definition of the smallest pathological CAG expansion in SCA7 [1]
-
DOI 10.1034/j.1399-0004.1999.560309.x
-
Nardacchione A, Orsi L, Brusco A, Franco A, Grosso E, Dragone E, Mortara P, Schiffer D, De Marchi M. 1999. Definition of the smallest pathological CAG expansion in SCA7. Clin Genet 56:232-234. (Pubitemid 29494823)
-
(1999)
Clinical Genetics
, vol.56
, Issue.3
, pp. 232-234
-
-
Nardacchione, A.1
Orsi, L.2
Brusco, A.3
Franco, A.4
Grosso, E.5
Dragone, E.6
Mortara, P.7
Schiffer, D.8
De Marchi, M.9
-
40
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
DOI 10.1038/ng0793-221
-
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. 1993. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226. (Pubitemid 23205168)
-
(1993)
Nature Genetics
, vol.4
, Issue.3
, 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
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
41
-
-
12944270425
-
Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus
-
DOI 10.1002/ajmg.b.30088
-
Padiath QS, Srivastava AK, Roy S, Jain S, Brahmachari SK. 2005. Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus. Am J Med Genet B Neuropsychiatr Genet 133B:124-126. (Pubitemid 40175630)
-
(2005)
American Journal of Medical Genetics - Neuropsychiatric Genetics
, vol.133 B
, Issue.1
, pp. 124-126
-
-
Padiath, Q.S.1
Srivastava, A.K.2
Roy, S.3
Jain, S.4
Brahmachari, S.K.5
-
42
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type
-
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. 1996. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276. (Pubitemid 126449760)
-
(1996)
Nature Genetics
, vol.14
, Issue.3
, 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
-
43
-
-
0001171788
-
Massive CTG expansions and deletions may reduce penetrance of spinocerebellar ataxia type 8
-
Ranum LPW, Moseley ML, Leppert MF, van den Engh G, La Spada AR, Koob MD, Day JW. 1999. Massive CTG expansions and deletions may reduce penetrance of spinocerebellar ataxia type 8. Am J Hum Genet 65(Suppl.):A466.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
-
-
Ranum, L.P.W.1
Moseley, M.L.2
Leppert, M.F.3
Van Den Engh, G.4
La Spada, A.R.5
Koob, M.D.6
Day, J.W.7
-
44
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
DOI 10.1002/ana.10676
-
Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schols L, Riess O. 2003. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54:367-375. (Pubitemid 37072039)
-
(2003)
Annals of Neurology
, vol.54
, Issue.3
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
Bauer, P.4
Buhlmann, S.5
Topka, H.6
Schols, L.7
Riess, O.8
-
45
-
-
0028072993
-
Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations
-
Rubinsztein DC, Leggo J, Amos W, Barton DE, Ferguson-Smith MA. 1994. Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations. Hum Mol Genet 3:2031-2035. (Pubitemid 24341382)
-
(1994)
Human Molecular Genetics
, vol.3
, Issue.11
, pp. 2031-2035
-
-
Rubinsztein, D.C.1
Leggo, J.2
Amos, W.3
Barton, D.E.4
Ferguson-Smith, M.A.5
-
46
-
-
0034061759
-
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
-
DOI 10.1007/s004390051026
-
Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, Maheshwari MC, Jain S, Brahmachari SK. 2000. 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. (Pubitemid 30156422)
-
(2000)
Human Genetics
, vol.106
, Issue.2
, pp. 179-187
-
-
Saleem, Q.1
Choudhry, S.2
Mukerji, M.3
Bashyam, L.4
Padma, M.V.5
Chakravarthy, A.6
Maheshwari, M.C.7
Jain, S.8
Brahmachari, S.K.9
-
47
-
-
38549085756
-
Clinical feature and molecular genetics of hereditary spinocerebellar ataxia
-
Japan
-
Sasaki H. 2007. [Clinical feature and molecular genetics of hereditary spinocerebellar ataxia]. Rinsho Shinkeigaku 47:795-800. [Japan]
-
(2007)
Rinsho Shinkeigaku
, vol.47
, pp. 795-800
-
-
Sasaki, H.1
-
48
-
-
1542674538
-
SCA19 and SCA22: Evidence for one locus with a worldwide distribution
-
author reply E7
-
Schelhaas HJ, Verbeek DS, Van de Warrenburg BP, Sinke RJ. 2004. SCA19 and SCA22: evidence for one locus with a worldwide distribution. Brain 127(Pt 1):E6; author reply E7.
-
(2004)
Brain
, vol.127
, Issue.PART 1
-
-
Schelhaas, H.J.1
Verbeek, D.S.2
Van De Warrenburg, B.P.3
Sinke, R.J.4
-
49
-
-
0035198979
-
Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12
-
DOI 10.1002/ana.10048
-
Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, Jain S. 2001. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 50:796-800. (Pubitemid 33116140)
-
(2001)
Annals of Neurology
, vol.50
, Issue.6
, pp. 796-800
-
-
Srivastava, A.K.1
Choudhry, S.2
Gopinath, M.S.3
Roy, S.4
Tripathi, M.5
Brahmachari, S.K.6
Jain, S.7
-
50
-
-
17844375688
-
Spinocerebellar ataxia with sensory neuropathy (SCA25)
-
DOI 10.1080/14734220510007932
-
Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. 2005. Spinocerebellar ataxia with sensory neuropathy (SCA25). Cerebellum 4:58-61. (Pubitemid 40592812)
-
(2005)
Cerebellum
, vol.4
, Issue.1
, pp. 58-61
-
-
Stevanin, G.1
Broussolle, E.2
Streichenberger, N.3
Kopp, N.4
Brice, A.5
Durr, A.6
-
51
-
-
0036237387
-
A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus
-
Swartz BE, Burmeister M, Somers JT, Rottach KG, Bespalova IN, Leigh RJ. 2002. A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus. Ann NY Acad Sci 956:441-444. (Pubitemid 34457638)
-
(2002)
Annals of the New York Academy of Sciences
, vol.956
, pp. 441-444
-
-
Swartz, B.E.1
Burmeister, M.2
Somers, J.T.3
Rottach, K.G.4
Bespalova, I.N.5
Leigh, R.J.6
-
52
-
-
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
-
DOI 10.1086/302067
-
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. 1998. 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. (Pubitemid 30418575)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.4
, 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..
-
53
-
-
1542509359
-
A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan
-
DOI 10.1016/j.neulet.2004.01.007, PII S0304394004000485
-
Terasawa H, Oda M, Morino H, Miyachi T, Izumi Y, Maruyama H, Matsumoto M, Kawakami H. 2004. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan. Neurosci Lett 358:107-110. (Pubitemid 38340732)
-
(2004)
Neuroscience Letters
, vol.358
, Issue.2
, pp. 107-110
-
-
Terasawa, H.1
Oda, M.2
Morino, H.3
Miyachi, T.4
Izumi, Y.5
Maruyama, H.6
Matsumoto, M.7
Kawakami, H.8
-
54
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia
-
DOI 10.1086/345488
-
van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P. 2003. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [Corrected]. Am J Hum Genet 72:191-199. (Pubitemid 36056856)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.1
, pp. 191-199
-
-
Van Swieten, J.C.1
Brusse, E.2
De Graaf, B.M.3
Krieger, E.4
Van De Graaf, R.5
De Koning, I.6
Maat-Kievit, A.7
Leegwater, P.8
Dooijes, D.9
Oostra, B.A.10
Heutink, P.11
-
55
-
-
8144221193
-
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
-
DOI 10.1093/brain/awh276
-
Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ. 2004. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 127(Pt 11):2551-2557. (Pubitemid 39472983)
-
(2004)
Brain
, vol.127
, Issue.11
, pp. 2551-2557
-
-
Verbeek, D.S.1
Van De Warrenburg, B.P.2
Wesseling, P.3
Pearson, P.L.4
Kremer, H.P.5
Sinke, R.J.6
-
56
-
-
0036830123
-
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
-
DOI 10.1002/ana.10344
-
Vuillaume I, Devos D, Schraen-Maschke S, Dina C, Lemainque A, Vasseur F, Bocquillon G, Devos P, Kocinski C, Marzys C, Destée A, Sablonnière B. 2002. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann Neurol 52:666-670. (Pubitemid 35246875)
-
(2002)
Annals of Neurology
, vol.52
, Issue.5
, pp. 666-670
-
-
Vuillaume, I.1
Devos, D.2
Schraen-Maschke, S.3
Dina, C.4
Lemainque, A.5
Vasseur, F.6
Bocquillon, G.7
Devos, P.8
Kocinski, C.9
Marzys, C.10
Destee, A.11
Sablonniere, B.12
-
57
-
-
33645421783
-
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
-
Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Dürr A, Brice A, Papazian DM, Pulst SM. 2006. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 38:447-451.
-
(2006)
Nat Genet
, vol.38
, pp. 447-451
-
-
Waters, M.F.1
Minassian, N.A.2
Stevanin, G.3
Figueroa, K.P.4
Bannister, J.P.5
Nolte, D.6
Mock, A.F.7
Evidente, V.G.8
Fee, D.B.9
Muller, U.10
Dürr, A.11
Brice, A.12
Papazian, D.M.13
Pulst, S.M.14
-
58
-
-
0033358555
-
Autosomal dominant cerebellar ataxia type III: Linkage in a large british family to a 7.6-cM region on chromosome 15.q14-21.3
-
DOI 10.1086/302495
-
Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. 1999. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet 65:420-426. (Pubitemid 30462999)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.2
, pp. 420-426
-
-
Worth, P.F.1
Giunti, P.2
Gardner-Thorpe, C.3
Dixon, P.H.4
Davis, M.B.5
Wood, N.W.6
-
59
-
-
14844297397
-
Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6
-
DOI 10.1002/ana.20371
-
Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM. 2005. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol 57:349-354. (Pubitemid 40343956)
-
(2005)
Annals of Neurology
, vol.57
, Issue.3
, pp. 349-354
-
-
Yu, G.-Y.1
Howell, M.J.2
Roller, M.J.3
Xie, T.-D.4
Gomez, C.M.5
-
60
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha (1A)-voltage-dependent calcium channel
-
DOI 10.1038/ng0197-62
-
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. 1997. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69. (Pubitemid 27014951)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, 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
-
61
-
-
0033760073
-
Spinocerebellar ataxias
-
DOI 10.1006/nbdi.2000.0346
-
Zoghbi HY. 2000. Spinocerebellar ataxias. Neurobiol Dis 7:523-527. (Pubitemid 30816206)
-
(2000)
Neurobiology of Disease
, vol.7
, Issue.5
, pp. 523-527
-
-
Zoghbi, H.Y.1
-
62
-
-
85047698133
-
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
-
DOI 10.1038/sj/ejhg/5200788
-
Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K. 2002. Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 10:204-209. (Pubitemid 34449718)
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.3
, pp. 204-209
-
-
Zuhlke, C.1
Dalski, A.2
Hellenbroich, Y.3
Bubel, S.4
Schwinger, E.5
Burk, K.6
|