-
1
-
-
34848824687
-
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: A study of 113 Japanese families
-
Basri R, Yabe I, Soma H, et al. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. J Hum Genet, 2007, 52:848-855.
-
(2007)
J Hum Genet
, vol.52
, pp. 848-855
-
-
Basri, R.1
Yabe, I.2
Soma, H.3
-
2
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
Dueñas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain, 2006, 129:1357-1370.
-
(2006)
Brain
, vol.129
, pp. 1357-1370
-
-
Dueñas, A.M.1
Goold, R.2
Giunti, P.3
-
3
-
-
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, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22. 1. Am J Hum Genet, 1996, 59:392-399.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 392-399
-
-
Flanigan, K.1
Gardner, K.2
Alderson, K.3
-
4
-
-
22544448383
-
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and rho guanine-nucleotide exchange-factor domains
-
Ishikawa K, Toru S, Tsunemi T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and rho guanine-nucleotide exchange-factor domains. Am J Hum Genet, 2005, 77:280-296.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 280-296
-
-
Ishikawa, K.1
Toru, S.2
Tsunemi, T.3
-
5
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol, 1993, 61:1-14.
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
6
-
-
33646448422
-
-
Wieczorek S, Arning L, Alheite 1, et al. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J Hum Genet, 2006, 51: 363-367.
-
Wieczorek S, Arning L, Alheite 1, et al. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J Hum Genet, 2006, 51: 363-367.
-
-
-
-
7
-
-
30344475206
-
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11. 22-q11. 2
-
Cagnoli C, Mariotti C, Taroni F, et al. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11. 22-q11. 2. Brain, 2006,129(Pt 1):235-242.
-
(2006)
Brain
, vol.129
, Issue.PART 1
, pp. 235-242
-
-
Cagnoli, C.1
Mariotti, C.2
Taroni, F.3
-
9
-
-
31744441984
-
Spectrin mutations cause spinocerebellar ataxia type 5
-
Ikeda Y, Dick KA, Weatherspoon MR, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet, 2006, 38:184-190.
-
(2006)
Nat Genet
, vol.38
, pp. 184-190
-
-
Ikeda, Y.1
Dick, K.A.2
Weatherspoon, M.R.3
-
10
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet, 1999, 21:379-384.
-
(1999)
Nat Genet
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
-
11
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet, 2000, 26:191-194.
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
-
12
-
-
36549023424
-
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
-
Houlden H, Johnson J, Gardner-Thorpe C, et al. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet, 2007, 39:1434-1436.
-
(2007)
Nat Genet
, vol.39
, pp. 1434-1436
-
-
Houlden, H.1
Johnson, J.2
Gardner-Thorpe, C.3
-
13
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12. Nat Genet, 1999, 23:391-392.
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
-
14
-
-
33645421783
-
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
-
Waters MF, Minassian NA, Stevanin G, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet, 2006, 38:447-451.
-
(2006)
Nat Genet
, vol.38
, pp. 447-451
-
-
Waters, M.F.1
Minassian, N.A.2
Stevanin, G.3
-
15
-
-
0037385006
-
Missense mutations in the regulatory domain of PKC-gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC-gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet, 2003, 72:839-849.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 839-849
-
-
Chen, D.H.1
Brkanac, Z.2
Verlinde, C.L.3
-
16
-
-
34347337686
-
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
-
van de Leemput J, Chandran J, Knight MA, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet, 2007, 3:e108.
-
(2007)
PLoS Genet
, vol.3
-
-
van de Leemput, J.1
Chandran, J.2
Knight, M.A.3
-
17
-
-
33749829704
-
The CNTN4 gene locus at 3p26 is a candidate gene of SCA16
-
Miura S, Shibata H, Furuya H, et al. The CNTN4 gene locus at 3p26 is a candidate gene of SCA16. Neurology, 2006, 67:1236-1241.
-
(2006)
Neurology
, vol.67
, pp. 1236-1241
-
-
Miura, S.1
Shibata, H.2
Furuya, H.3
-
18
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia
-
van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia. Am J Hum Genet, 2003, 72:191-199.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 191-199
-
-
van Swieten, J.C.1
Brusse, E.2
de Graaf, B.M.3
-
19
-
-
34249075682
-
Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population
-
Nozaki H, Ikeuchi T, Kawakami A, et al. Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. Mov Disord, 2007, 22:857-862.
-
(2007)
Mov Disord
, vol.22
, pp. 857-862
-
-
Nozaki, H.1
Ikeuchi, T.2
Kawakami, A.3
-
20
-
-
35348877394
-
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
-
Martins S, Calafell F, Gaspar C, et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Arch Neurol, 2007, 64:1502-1508.
-
(2007)
Arch Neurol
, vol.64
, pp. 1502-1508
-
-
Martins, S.1
Calafell, F.2
Gaspar, C.3
|