-
1
-
-
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
-
2
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
-
3
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, 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
-
4
-
-
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
-
5
-
-
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
-
6
-
-
0032006106
-
Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1
-
Sahba S, Nechiporuk A, Figueroa KP, Nechiporuk T, Pulst SM. Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. Genomics 1998; 47:359-364.
-
(1998)
Genomics
, vol.47
, pp. 359-364
-
-
Sahba, S.1
Nechiporuk, A.2
Figueroa, K.P.3
Nechiporuk, T.4
Pulst, S.M.5
-
7
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki, 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
Taniwaki3
-
8
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295-299.
-
(1993)
Nat Genet
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
-
9
-
-
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
-
10
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280-284.
-
(1994)
Nat Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.1
Schut, L.J.2
Lundgren, J.K.3
Orr, H.T.4
Livingston, D.M.5
-
11
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
12
-
-
19244364538
-
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: Genetic and physical mapping of the SCA7 locus
-
David G, Giunti P, Abbas N, et al. The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet 1996;59:1328-1336.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1328-1336
-
-
David, G.1
Giunti, P.2
Abbas, N.3
-
13
-
-
0029048660
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
-
Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995;10:89-93.
-
(1995)
Nat Genet
, vol.10
, pp. 89-93
-
-
Gouw, L.G.1
Kaplan, C.D.2
Haines, J.H.3
-
14
-
-
0029031694
-
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
-
Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995;10: 84-88.
-
(1995)
Nat Genet
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
-
15
-
-
0031278715
-
CAG repeats in SCA6. Anticipating new clues
-
Zoghbi HY. CAG repeats in SCA6. Anticipating new clues. Neurology 1997;49:1196-1199.
-
(1997)
Neurology
, vol.49
, pp. 1196-1199
-
-
Zoghbi, H.Y.1
-
16
-
-
0030700891
-
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
-
Andrew SE, Goldberg YP, Hayden MR. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet 1997;6:2005-2010.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2005-2010
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Hayden, M.R.3
-
17
-
-
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
-
18
-
-
6844239536
-
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
-
Del-Favero J, Krols L, Michalik A, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet 1998;7:177-186.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 177-186
-
-
Del-Favero, J.1
Krols, L.2
Michalik, A.3
-
19
-
-
0031984597
-
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
-
Koob MD, Benzow KA, Bird TD, Day JW, Moseley ML, Ranum LP. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nat Genet 1998;18:72-75.
-
(1998)
Nat Genet
, vol.18
, pp. 72-75
-
-
Koob, M.D.1
Benzow, K.A.2
Bird, T.D.3
Day, J.W.4
Moseley, M.L.5
Ranum, L.P.6
-
20
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G, Dürr A, Stevanin G, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 1998; 7:165-170.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 165-170
-
-
David, G.1
Dürr, A.2
Stevanin, G.3
-
21
-
-
0031963416
-
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: Effect of CAG repeat length on the clinical manifestation
-
Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M. Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 1998;7:171-176.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 171-176
-
-
Johansson, J.1
Forsgren, L.2
Sandgren, O.3
Brice, A.4
Holmgren, G.5
Holmberg, M.6
-
22
-
-
6844252925
-
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
-
Gouw LG, Castaneda MA, McKenna CK, et al. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 1998;7: 525-532.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 525-532
-
-
Gouw, L.G.1
Castaneda, M.A.2
McKenna, C.K.3
-
23
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
-
Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 1993;5:254-258.
-
(1993)
Nat Genet
, vol.5
, pp. 254-258
-
-
Chung, M.Y.1
Ranum, L.P.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
24
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
-
Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995;4:807-812.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
-
25
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996;39:490-499.
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Dürr, A.1
Stevanin, G.2
Cancel, G.3
-
26
-
-
0028067717
-
Molecular genetics of hereditary ataxias
-
Banfi S, Zoghbi HY. Molecular genetics of hereditary ataxias. Baillieres Clin Neurol 1994;3:281-295.
-
(1994)
Baillieres Clin Neurol
, vol.3
, pp. 281-295
-
-
Banfi, S.1
Zoghbi, H.Y.2
-
27
-
-
0025086902
-
Autosomal dominant cone dystrophy-cerebellar atrophy (ADCoCA) (modified ADCA Harding II)
-
Neetens A, Martin JJ, Libert J, et al. Autosomal dominant cone dystrophy-cerebellar atrophy (ADCoCA) (modified ADCA Harding II). Neuro-ophthalmology 1990;10:261-275.
-
(1990)
Neuro-ophthalmology
, vol.10
, pp. 261-275
-
-
Neetens, A.1
Martin, J.J.2
Libert, J.3
-
28
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada A, Lubahn D, Harding A, Fischbeck K. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.1
Lubahn, D.2
Harding, A.3
Fischbeck, K.4
-
29
-
-
0027366138
-
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
-
published erratum appears in Nat Genet 1994;6:214
-
Mhatre AN, Trifiro MA, Kaufman M, et al. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy [published erratum appears in Nat Genet 1994;6:214]. Nat Genet 1993;5: 184-188.
-
(1993)
Nat Genet
, vol.5
, pp. 184-188
-
-
Mhatre, A.N.1
Trifiro, M.A.2
Kaufman, M.3
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