-
1
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of eleven families, including descendants of 'the Drew family of Walworth'
-
Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of eleven families, including descendants of 'the Drew family of Walworth'. Brain 1982; 105: 1-28.
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
2
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; i: 1151-1155.
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
5
-
-
0014787658
-
The olivopontocerebellar atrophies: A review
-
Baltimore
-
Konigsmark BW, Weiner LP. The olivopontocerebellar atrophies: a review. Medicine (Baltimore) 1970; 49: 227-241.
-
(1970)
Medicine
, vol.49
, pp. 227-241
-
-
Konigsmark, B.W.1
Weiner, L.P.2
-
7
-
-
0028037806
-
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias
-
Giunti P, Sweeney MG, Spadaro M et al. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 1994; 117: 645-649.
-
(1994)
Brain
, vol.117
, pp. 645-649
-
-
Giunti, P.1
Sweeney, M.G.2
Spadaro, M.3
-
8
-
-
0027182918
-
Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women
-
Waters CH, Takahashi H, Wilhelmsen KC et al. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. Neurology 1993; 43: 1555-1558.
-
(1993)
Neurology
, vol.43
, pp. 1555-1558
-
-
Waters, C.H.1
Takahashi, H.2
Wilhelmsen, K.C.3
-
9
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Dürr A, Smadja D, Cancel G et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995; 118: 1573-1581.
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Dürr, A.1
Smadja, D.2
Cancel, G.3
-
10
-
-
0025916226
-
Non-paternity and prenatal genetic screening
-
Macintyre S, Sooman A. Non-paternity and prenatal genetic screening. Lancet 1991; 338: 869-871.
-
(1991)
Lancet
, vol.338
, pp. 869-871
-
-
Macintyre, S.1
Sooman, A.2
-
11
-
-
0026075888
-
Non-paternity and prenatal genetic screening
-
Brock DJH, Shrimpton AE. Non-paternity and prenatal genetic screening. (Letter) Lancet 1991; 338: 1151.
-
(1991)
Lancet
, vol.338
, pp. 1151
-
-
Brock, D.J.H.1
Shrimpton, A.E.2
-
12
-
-
0026693743
-
Non-paternity and genetic counselling
-
Le Roux M-G, Pascal O, Andre M-T, Herbert O, David A, Moisan J-P. Non-paternity and genetic counselling. (Letter) Lancet 1992; 340: 607.
-
(1992)
Lancet
, vol.340
, pp. 607
-
-
Le Roux, M.-G.1
Pascal, O.2
Andre, M.-T.3
Herbert, O.4
David, A.5
Moisan, J.-P.6
-
13
-
-
0027435939
-
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
-
Myers RH, MacDonald ME, Koroshetz WJ et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nature Genet 1993; 5: 168-173.
-
(1993)
Nature Genet
, vol.5
, pp. 168-173
-
-
Myers, R.H.1
MacDonald, M.E.2
Koroshetz, W.J.3
-
14
-
-
0031128793
-
SCA2 trinucleotide expansion in German SCA patients
-
Riess O, Laccone FA, Gispert S et al. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1997; 1: 59-64.
-
(1997)
Neurogenetics
, vol.1
, pp. 59-64
-
-
Riess, O.1
Laccone, F.A.2
Gispert, S.3
-
15
-
-
15444348424
-
Spinocerebellar ataxia type 2: Genotype and phenotype in German kindreds
-
Schöls L, Gispert S, Vorgerd M et al. Spinocerebellar ataxia type 2: genotype and phenotype in German kindreds. Arch Neurol 1997; 54: 1073-1080.
-
(1997)
Arch Neurol
, vol.54
, pp. 1073-1080
-
-
Schöls, L.1
Gispert, S.2
Vorgerd, M.3
-
16
-
-
0029134871
-
Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive or sporadic ataxia
-
Ranum LPW, Lundgren JK, Schut LJ et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive or sporadic ataxia. Am J Human Genet 1995; 57: 603-608.
-
(1995)
Am J Human Genet
, vol.57
, pp. 603-608
-
-
Ranum, L.P.W.1
Lundgren, J.K.2
Schut, L.J.3
-
17
-
-
0028988941
-
Trinucleotide expansion within the MJD 1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
-
Schöls L, Vieira-Saecker AMM, Schöls S, Przuntek H, Epplen JT, Riess O. Trinucleotide expansion within the MJD 1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Human Mol Genet 1995; 4: 1001-1005.
-
(1995)
Human Mol Genet
, vol.4
, pp. 1001-1005
-
-
Schöls, L.1
Vieira-Saecker, A.M.M.2
Schöls, S.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
18
-
-
0030944114
-
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
-
Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Human Genet 1997; 60: 842-850.
-
(1997)
Am J Human Genet
, vol.60
, pp. 842-850
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, C.P.3
Treiman, L.J.4
Pulst, S.M.5
-
19
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
-
Cancel G, Dürr A, Didierjean O et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Human Mol Genet 1997; 6: 709-715.
-
(1997)
Human Mol Genet
, vol.6
, pp. 709-715
-
-
Cancel, G.1
Dürr, A.2
Didierjean, O.3
-
20
-
-
0030679611
-
Spinocerebellar ataxia type 6: Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
-
Matsumura R, Futamura N, Fujimoto Y et al. Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997; 49: 1238-1243.
-
(1997)
Neurology
, vol.49
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
-
21
-
-
0031278715
-
CAG repeats in SCA6: Anticipating new clues
-
Zoghbi H. CAG repeats in SCA6: anticipating new clues. Neurology 1997; 49: 1196-1209.
-
(1997)
Neurology
, vol.49
, pp. 1196-1209
-
-
Zoghbi, H.1
-
22
-
-
0029942905
-
The relationship of multiple system atrophy to sporadic olivopontocerebellar atrophy and other forms of idiopathic late-onset cerebellar atrophy
-
Gilman S, Quinn NP. The relationship of multiple system atrophy to sporadic olivopontocerebellar atrophy and other forms of idiopathic late-onset cerebellar atrophy. Neurology 1996; 46: 1197-1199.
-
(1996)
Neurology
, vol.46
, pp. 1197-1199
-
-
Gilman, S.1
Quinn, N.P.2
-
23
-
-
0027930620
-
Clinical features and natural history of multiple system atrophy: An analysis of 100 cases
-
Wenning GK, Ben Shlomo Y, Magalhães M, Daniel SE, Quinn NP. Clinical features and natural history of multiple system atrophy: an analysis of 100 cases. Brain 1994; 117: 835-845.
-
(1994)
Brain
, vol.117
, pp. 835-845
-
-
Wenning, G.K.1
Ben Shlomo, Y.2
Magalhães, M.3
Daniel, S.E.4
Quinn, N.P.5
-
24
-
-
0031029831
-
Survival of patients with pathologically proven multiple system atrophy: A meta-analysis
-
Ben-Shlomo Y, Wenning GK, Tison F, Quinn NP. Survival of patients with pathologically proven multiple system atrophy: a meta-analysis. Neurology 1997; 48: 384-393.
-
(1997)
Neurology
, vol.48
, pp. 384-393
-
-
Ben-Shlomo, Y.1
Wenning, G.K.2
Tison, F.3
Quinn, N.P.4
-
25
-
-
0028304397
-
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: A clinical and genetic study of eight families
-
Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eight families. Brain 1994; 117: 445-460.
-
(1994)
Brain
, vol.117
, pp. 445-460
-
-
Enevoldson, T.P.1
Sanders, M.D.2
Harding, A.E.3
-
26
-
-
0029048660
-
Retinal degeneration characterises a spinocerebellar ataxia mapping to chromosome 3p
-
Gouw L, Kaplan CD, Haines JH et al. Retinal degeneration characterises a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet 1995; 10: 89-93.
-
(1995)
Nature Genet
, vol.10
, pp. 89-93
-
-
Gouw, L.1
Kaplan, C.D.2
Haines, J.H.3
-
27
-
-
0000016350
-
Multiple system atrophy
-
CD Marsden, S Fahn (eds). Oxford: Butterworth-Heinemann
-
Quinn N. Multiple system atrophy. In: CD Marsden, S Fahn (eds). Movement Disorders 3. Oxford: Butterworth-Heinemann, 1994: 262-281.
-
(1994)
Movement Disorders
, vol.3
, pp. 262-281
-
-
Quinn, N.1
-
28
-
-
0030936978
-
Machado-Joseph disease: Clinical, molecular, and metabolic characterization in Chinese kindreds
-
Soong B, Cheng C, Liu R, Shan D. Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. Ann Neurol 1997; 41: 446-452.
-
(1997)
Ann Neurol
, vol.41
, pp. 446-452
-
-
Soong, B.1
Cheng, C.2
Liu, R.3
Shan, D.4
-
29
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier Y, Lutz Y, Stevanin G et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995; 378: 403-406.
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
-
30
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung M, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet 1993; 5: 254-258.
-
(1993)
Nature Genet
, vol.5
, pp. 254-258
-
-
Chung, M.1
Ranum, L.P.W.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
31
-
-
0027716371
-
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
-
Matilla T, Volpini V, Genis D et al. Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Human Molec Genet 1993; 2: 2123-2128.
-
(1993)
Human Molec Genet
, vol.2
, pp. 2123-2128
-
-
Matilla, T.1
Volpini, V.2
Genis, D.3
-
32
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1
-
Jodice C, Malaspina P, Persichetti F et al. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am J Human Genet 1994; 54: 959-965.
-
(1994)
Am J Human Genet
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
-
34
-
-
0028025275
-
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
-
Belal S, Cancel G, Stevanin G et al. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 1994; 44: 1423-1426.
-
(1994)
Neurology
, vol.44
, pp. 1423-1426
-
-
Belal, S.1
Cancel, G.2
Stevanin, G.3
-
35
-
-
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. Human Mol Genet 1995; 4: 807-812.
-
(1995)
Human Mol Genet
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
-
36
-
-
0029009456
-
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
-
Takiyama Y, Igarashi S, Rogaeva EA et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Human Mol Genet 1995; 4: 1137-1146.
-
(1995)
Human Mol Genet
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
-
37
-
-
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
-
38
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum LPW, 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. Nature Genet 1994; 8: 280-284.
-
(1994)
Nature Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.W.1
Schut, L.J.2
Lundgren, J.K.3
Orr, H.T.4
Livingston, D.M.5
-
39
-
-
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. Nature Genet 1995; 10: 84-88.
-
(1995)
Nature Genet
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
-
40
-
-
0029792130
-
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q 22.1
-
Flanigan K, Gardner K, Alderson K et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q 22.1. Am J Human Genet 1996; 59: 392-399.
-
(1996)
Am J Human Genet
, vol.59
, pp. 392-399
-
-
Flanigan, K.1
Gardner, K.2
Alderson, K.3
-
41
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin G, Dürr A, David G et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997; 49: 1243-1246.
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Dürr, A.2
David, G.3
-
42
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (sca6)
-
Matsuyama Z, Kawakami H, Maruyama H et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (sca6). Human Mol Genet 1997; 6: 1283-1287.
-
(1997)
Human Mol Genet
, vol.6
, pp. 1283-1287
-
-
Matsuyama, Z.1
Kawakami, H.2
Maruyama, H.3
-
43
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNAIA gene on chromosome 19p
-
Jodice C, Mantuano E, Veneziano L et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNAIA gene on chromosome 19p. Human Mol Genet 1997; 6; 1973-1978.
-
(1997)
Human Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Veneziano, L.3
-
44
-
-
0027503515
-
Kennedy's disease: A clinicopathologic correlation with mutations in the androgen receptor gene
-
Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology 1993; 43: 791-794.
-
(1993)
Neurology
, vol.43
, pp. 791-794
-
-
Amato, A.A.1
Prior, T.W.2
Barohn, R.J.3
Snyder, P.4
Papp, A.5
Mendell, J.R.6
-
45
-
-
0030699138
-
Spinocerebellar ataxia type 6: Frequency of the mutation and genotype correlations
-
Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst ST. Spinocerebellar ataxia type 6: frequency of the mutation and genotype correlations. Neurology 1997; 49: 1247-1251.
-
(1997)
Neurology
, vol.49
, pp. 1247-1251
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, K.P.3
Karrim, J.4
Baloh, R.W.5
Pulst, S.T.6
-
46
-
-
0026456689
-
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
-
Doyu M, Sobue G, Mukai E et al. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 1992; 32: 707-710.
-
(1992)
Ann Neurol
, vol.32
, pp. 707-710
-
-
Doyu, M.1
Sobue, G.2
Mukai, E.3
-
47
-
-
0028938117
-
Spinocerebellar ataxia 1 (SCA1) in the Japanese: Analysis of CAG trinucleotide repeat expansion and instability of the repeat for paternal transmission
-
Suzuki Y, Sasaki H, Wakisaka A et al. Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleotide repeat expansion and instability of the repeat for paternal transmission. Jpn J Human Genet 1995; 40: 131-143.
-
(1995)
Jpn J Human Genet
, vol.40
, pp. 131-143
-
-
Suzuki, Y.1
Sasaki, H.2
Wakisaka, A.3
-
48
-
-
0028815025
-
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure O, Sano A, Nishino N et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995; 45: 143-149.
-
(1995)
Neurology
, vol.45
, pp. 143-149
-
-
Komure, O.1
Sano, A.2
Nishino, N.3
-
49
-
-
0023115076
-
Homozygotes for Huntington's disease
-
Wexler NS, Young AB, Tanzi RE et al. Homozygotes for Huntington's disease. Nature 1987; 326: 194-197.
-
(1987)
Nature
, vol.326
, pp. 194-197
-
-
Wexler, N.S.1
Young, A.B.2
Tanzi, R.E.3
-
51
-
-
0028316870
-
A worldwide study of the Huntington's disease mutation: The sensitivity and specificity of measuring CAG repeats
-
Kremer B, Goldberg P, Andrew SE et al. A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. New Engl J Med 1994; 330: 1401-1406.
-
(1994)
New Engl J Med
, vol.330
, pp. 1401-1406
-
-
Kremer, B.1
Goldberg, P.2
Andrew, S.E.3
-
52
-
-
9244229051
-
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
-
Goldfarb LG, Vasconcelos O, Platonov FA et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 1996; 39: 500-506.
-
(1996)
Ann Neurol
, vol.39
, pp. 500-506
-
-
Goldfarb, L.G.1
Vasconcelos, O.2
Platonov, F.A.3
-
53
-
-
0029864225
-
Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation
-
Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N. Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Human Genet 1996; 4: 3-7.
-
(1996)
Eur J Human Genet
, vol.4
, pp. 3-7
-
-
Lerer, I.1
Merims, D.2
Abeliovich, D.3
Zlotogora, J.4
Gadoth, N.5
-
54
-
-
0029431673
-
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?
-
Sato K, Kashihara K, Okada S et al. Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology 1995; 45: 1934-1936.
-
(1995)
Neurology
, vol.45
, pp. 1934-1936
-
-
Sato, K.1
Kashihara, K.2
Okada, S.3
-
56
-
-
0029055601
-
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
-
Trottier Y, Devys D, Imbert G et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet 1995; 10: 104-110.
-
(1995)
Nature Genet
, vol.10
, pp. 104-110
-
-
Trottier, Y.1
Devys, D.2
Imbert, G.3
-
57
-
-
0029034511
-
Widespread expression of Huntington's disease gene (IT15) protein product
-
Sharp AH, Loev SJ, Schilling G et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 1995; 14: 1065-1074.
-
(1995)
Neuron
, vol.14
, pp. 1065-1074
-
-
Sharp, A.H.1
Loev, S.J.2
Schilling, G.3
-
58
-
-
0029015557
-
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
-
Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet 1995; 10: 99-103.
-
(1995)
Nature Genet
, vol.10
, pp. 99-103
-
-
Yazawa, I.1
Nukina, N.2
Hashida, H.3
Goto, J.4
Yamada, M.5
Kanazawa, I.6
-
59
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet 1995; 10: 94-98.
-
(1995)
Nature Genet
, vol.10
, pp. 94-98
-
-
Servadio, A.1
Koshy, B.2
Armstrong, D.3
Antalffy, B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
60
-
-
0028916306
-
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
-
Ueno S, Kondoh K, Kotani Y et al. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Human Mol Genet 1995; 4: 663-666.
-
(1995)
Human Mol Genet
, vol.4
, pp. 663-666
-
-
Ueno, S.1
Kondoh, K.2
Kotani, Y.3
-
61
-
-
0029847087
-
Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals
-
Nishiyama K, Murayama S, Goto J et al. Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals. Ann Neurol 1996; 40: 776-781.
-
(1996)
Ann Neurol
, vol.40
, pp. 776-781
-
-
Nishiyama, K.1
Murayama, S.2
Goto, J.3
-
62
-
-
0028803757
-
A huntingtin-associated protein enriched in brain with implications for pathology
-
Li X-J, Li S-H, Sharp AH et al. A huntingtin-associated protein enriched in brain with implications for pathology. Nature 1995; 378: 398-402.
-
(1995)
Nature
, vol.378
, pp. 398-402
-
-
Li, X.-J.1
Li, S.-H.2
Sharp, A.H.3
-
63
-
-
0029664992
-
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke JR, Enghild JJ, Martin ME et al. Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med 1996; 2: 347-350.
-
(1996)
Nature Med
, vol.2
, pp. 347-350
-
-
Burke, J.R.1
Enghild, J.J.2
Martin, M.E.3
-
64
-
-
9444239187
-
Huntingtin is ubiquinated and interacts with a specific ubiquitin-conjugating enzyme
-
Kalchman MA, Graham RK, Xia G et al. Huntingtin is ubiquinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem 1996; 271: 19385-19394.
-
(1996)
J Biol Chem
, vol.271
, pp. 19385-19394
-
-
Kalchman, M.A.1
Graham, R.K.2
Xia, G.3
-
65
-
-
0030986659
-
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain
-
Kalchman MA, Koide HB, McCutcheon K et al. HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nature Genet 1997; 16: 44-53.
-
(1997)
Nature Genet
, vol.16
, pp. 44-53
-
-
Kalchman, M.A.1
Koide, H.B.2
McCutcheon, K.3
-
66
-
-
0031056478
-
HIP-1: A huntingtin interacting protein isolated by the yeast two-hybrid system
-
Wanker EE, Rovira C, Scherzinger E et al. HIP-1: a huntingtin interacting protein isolated by the yeast two-hybrid system. Human Mol Genet 1997; 6: 487-495.
-
(1997)
Human Mol Genet
, vol.6
, pp. 487-495
-
-
Wanker, E.E.1
Rovira, C.2
Scherzinger, E.3
-
67
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet 1996; 13: 196-202.
-
(1996)
Nature Genet
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
68
-
-
9344227302
-
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
-
Goldberg YP, Nicholson DW, Rasper DM et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet 1996; 13: 442-449.
-
(1996)
Nature Genet
, vol.13
, pp. 442-449
-
-
Goldberg, Y.P.1
Nicholson, D.W.2
Rasper, D.M.3
-
69
-
-
0028141728
-
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14
-
St. George-Hyslop P, Rogaeva E, Huterer J et al. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am J Hum Genet 1994; 55: 120-125.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 120-125
-
-
St George-Hyslop, P.1
Rogaeva, E.2
Huterer, J.3
-
70
-
-
18544410106
-
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
-
Davies, SW, Turmaine M, Cozens BA et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997; 90: 537-548.
-
(1997)
Cell
, vol.90
, pp. 537-548
-
-
Davies, S.W.1
Turmaine, M.2
Cozens, B.A.3
-
71
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz MF, Johnson T, Suzuki M, Finch JT. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci USA 1994; 91: 5355-5358.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 5355-5358
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
72
-
-
18544400323
-
Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
-
Scherzinger E, Lurz R, Turmaine M et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997; 90: 549-558.
-
(1997)
Cell
, vol.90
, pp. 549-558
-
-
Scherzinger, E.1
Lurz, R.2
Turmaine, M.3
-
73
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson HL, Perez MK, Trottier Y et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997; 19: 333-344.
-
(1997)
Neuron
, vol.19
, pp. 333-344
-
-
Paulson, H.L.1
Perez, M.K.2
Trottier, Y.3
-
74
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
-
Skinner PJ, Koshy BT, Cummings CT et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997; 389: 971-974.
-
(1997)
Nature
, vol.389
, pp. 971-974
-
-
Skinner, P.J.1
Koshy, B.T.2
Cummings, C.T.3
-
75
-
-
0002885477
-
Neuronal nuclear-cytoplasmic changes in Huntington's chorea: Electron microscope investigations
-
Roizin L, Stellar S, Liu JC. Neuronal nuclear-cytoplasmic changes in Huntington's chorea: electron microscope investigations. Adv Neurol 1979; 23: 95-122.
-
(1979)
Adv Neurol
, vol.23
, pp. 95-122
-
-
Roizin, L.1
Stellar, S.2
Liu, J.C.3
-
76
-
-
0030716768
-
The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1
-
Matilla A, Koshy BT, Cummings CT, Isobe T, Orr HT, Zoghbi HY. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 1997; 389: 974-978.
-
(1997)
Nature
, vol.389
, pp. 974-978
-
-
Matilla, A.1
Koshy, B.T.2
Cummings, C.T.3
Isobe, T.4
Orr, H.T.5
Zoghbi, H.Y.6
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