-
2
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, Mclnnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5′ 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
Mclnnis, M.G.3
-
3
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong S-Y, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001;10:1441-1448.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.-Y.2
Uchihara, T.3
-
4
-
-
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
-
5
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral- pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
-
6
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994;6:14-18.
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
-
7
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
Banfi S, Servadio A, Chung M-Y, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994;7:513-520.
-
(1994)
Nat Genet
, vol.7
, pp. 513-520
-
-
Banfi, S.1
Servadio, A.2
Chung, M.-Y.3
-
8
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S-M, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.-M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
9
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
-
10
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285-291.
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
11
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
12
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
13
-
-
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
-
14
-
-
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
-
15
-
-
0037385006
-
Missense mutations in the regulatory domain of PKCγ: A new mechanism for dominant non epileptic cerebellar ataxia
-
Chen D-H, Brkanac Z, Verlinde CLMJ, et al. Missense mutations in the regulatory domain of PKCγ: a new mechanism for dominant non epileptic 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.M.J.3
-
16
-
-
0346754906
-
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase Cγ
-
Yabe I, Sasaki H, Chen D-H, et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase Cγ. Arch Neurol 2003;60:1749-1751.
-
(2003)
Arch Neurol
, vol.60
, pp. 1749-1751
-
-
Yabe, I.1
Sasaki, H.2
Chen, D.-H.3
-
17
-
-
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
-
18
-
-
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
-
19
-
-
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;129:235-242.
-
(2006)
Brain
, vol.129
, pp. 235-242
-
-
Cagnoli, C.1
Mariotti, C.2
Taroni, F.3
-
20
-
-
0035960565
-
A new autosomal dominant pure cerebellar ataxia
-
Storey E, Gardner RJM, Knight MA, et al. A new autosomal dominant pure cerebellar ataxia. Neurology 2001;57:1913-1915.
-
(2001)
Neurology
, vol.57
, pp. 1913-1915
-
-
Storey, E.1
Gardner, R.J.M.2
Knight, M.A.3
-
21
-
-
0038048459
-
Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: Exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
-
Knight MA, Kennerson ML, Anney RJ, et al. Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis 2003;13:147-157.
-
(2003)
Neurobiol Dis
, vol.13
, pp. 147-157
-
-
Knight, M.A.1
Kennerson, M.L.2
Anney, R.J.3
-
22
-
-
0035838438
-
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
-
Miyoshi Y, Yamada T, Tanimura M, et al. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 2001;57:96-100.
-
(2001)
Neurology
, vol.57
, pp. 96-100
-
-
Miyoshi, Y.1
Yamada, T.2
Tanimura, M.3
-
24
-
-
0027968068
-
CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
-
Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994;22:4673-4680.
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 4673-4680
-
-
Thompson, J.D.1
Higgins, D.G.2
Gibson, T.J.3
-
25
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:159-165.
-
(1992)
Nat Genet
, vol.1
, pp. 159-165
-
-
Patel, P.I.1
Roa, B.B.2
Welcher, A.A.3
-
26
-
-
18544386815
-
A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain
-
Zeng L, Zhang C, Xu J, et al. A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain. J Hum Genet 2002;47:497-499.
-
(2002)
J Hum Genet
, vol.47
, pp. 497-499
-
-
Zeng, L.1
Zhang, C.2
Xu, J.3
-
27
-
-
0345017612
-
Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2)
-
Hansford LM, Smith SA, Haber M, Cheung NB, Marshall GM. Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2). Cytogenet Genome Res 2003;101:17-23.
-
(2003)
Cytogenet Genome Res
, vol.101
, pp. 17-23
-
-
Hansford, L.M.1
Smith, S.A.2
Haber, M.3
Cheung, N.B.4
Marshall, G.M.5
-
28
-
-
0033231497
-
Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression
-
Berglund EO, Murai KK, Fredette B, et al. Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression. Neuron 1999;24:739-750.
-
(1999)
Neuron
, vol.24
, pp. 739-750
-
-
Berglund, E.O.1
Murai, K.K.2
Fredette, B.3
-
29
-
-
0042123866
-
Impaired motor coordination in mice lacking neural recognition molecule NB-3 of the contactin/F3 subgroup
-
Takeda Y, Akasaka K, Lee S, et al. Impaired motor coordination in mice lacking neural recognition molecule NB-3 of the contactin/F3 subgroup. J Neurobiol 2003;56:252-265.
-
(2003)
J Neurobiol
, vol.56
, pp. 252-265
-
-
Takeda, Y.1
Akasaka, K.2
Lee, S.3
-
30
-
-
0032705747
-
46, XY, del (3) (pter→p25) syndrome: Further delineation of the clinical phenotype
-
Benini D, Vino L, Vecchini S, Fanos V. 46, XY, del (3) (pter→p25) syndrome: further delineation of the clinical phenotype. Eur J Pediatr 1999;158:955-957.
-
(1999)
Eur J Pediatr
, vol.158
, pp. 955-957
-
-
Benini, D.1
Vino, L.2
Vecchini, S.3
Fanos, V.4
-
31
-
-
0033837814
-
A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter
-
Higgins JJ, Rosen DR, Loveless JM, Clyman JC, Grau MJ. A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter. Neurology 2000;55:335-340.
-
(2000)
Neurology
, vol.55
, pp. 335-340
-
-
Higgins, J.J.1
Rosen, D.R.2
Loveless, J.M.3
Clyman, J.C.4
Grau, M.J.5
-
32
-
-
2442641704
-
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome
-
Fernandez T, Morgan T, Davis N, et al. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 2004;74:1286-1293.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1286-1293
-
-
Fernandez, T.1
Morgan, T.2
Davis, N.3
-
33
-
-
11144305273
-
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
-
Dudding TE, Friend K, Schofield PW, Lee S, Wilkinson IA, Richards RI. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 2004;63:2288-2292.
-
(2004)
Neurology
, vol.63
, pp. 2288-2292
-
-
Dudding, T.E.1
Friend, K.2
Schofield, P.W.3
Lee, S.4
Wilkinson, I.A.5
Richards, R.I.6
-
34
-
-
10744232588
-
Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus
-
Hara K, Fukushima T, Suzuki T, et al. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Neurology 2004;62:648-651.
-
(2004)
Neurology
, vol.62
, pp. 648-651
-
-
Hara, K.1
Fukushima, T.2
Suzuki, T.3
-
35
-
-
0027279421
-
Messenger RNA degradation in eukaryotes
-
Sachs AB. Messenger RNA degradation in eukaryotes. Cell 1993;74:413-421.
-
(1993)
Cell
, vol.74
, pp. 413-421
-
-
Sachs, A.B.1
-
36
-
-
11144221947
-
RNA-binding proteins and neural development: A matter of targets and complexes
-
Agnès F, Perron M. RNA-binding proteins and neural development: a matter of targets and complexes. Neuroreport 2004;15:2567-2570.
-
(2004)
Neuroreport
, vol.15
, pp. 2567-2570
-
-
Agnès, F.1
Perron, M.2
-
37
-
-
26844498125
-
Sequence variants in SLITRK1 are associated with Tourette's syndrome
-
Abelson JF, Kwan KY, O'Roak BJ, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005;310:317-320.
-
(2005)
Science
, vol.310
, pp. 317-320
-
-
Abelson, J.F.1
Kwan, K.Y.2
O'Roak, B.J.3
|