-
1
-
-
0011915513
-
The spinocerebellar degenerations
-
Appel, S.H.) (Mosby-Year Book, Inc., St. Louis
-
Zoghbi, H. Y. The spinocerebellar degenerations. in Current Neurology (ed. Appel, S. H.) 87-110 (Mosby-Year Book, Inc., St. Louis, 1993).
-
(1993)
Current Neurology
, pp. 87-110
-
-
Zoghbi, H.Y.1
-
2
-
-
0027164698
-
Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1
-
Orr, H. et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.1
-
3
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
Banfi, S. et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet. 7, 513-519 (1994).
-
(1994)
Nature Genet
, vol.7
, pp. 513-519
-
-
Banfi, S.1
-
4
-
-
0027996828
-
Dynamic mutations hit double figures
-
Willems, P. J. Dynamic mutations hit double figures. Nature Genet. 8, 213-215 (1994).
-
(1994)
Nature Genet
, vol.8
, pp. 213-215
-
-
Willems, P.J.1
-
5
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fischbeck, H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, H.5
-
6
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72, 971-983 (1993).
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
7
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
-
8
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6, 14-18 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
-
9
-
-
0028169738
-
The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family
-
Burke, J. R. et al. The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet. 7, 521-524 (1994).
-
(1994)
Nature Genet
, vol.7
, pp. 521-524
-
-
Burke, J.R.1
-
10
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32. 1
-
Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32. 1. Nature Genet. 8, 221-227 (1994).
-
(1994)
Nature Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
-
11
-
-
84966160518
-
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease
-
(in the press)
-
Matilla, T., McCall, A., Subramony, S. H. & Zoghbi, H. Y. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann. Neurol. (in the press).
-
Ann. Neurol
-
-
Matilla, T.1
McCall, A.2
Subramony, S.H.3
Zoghbi, H.Y.4
-
12
-
-
0026568515
-
Complete deletion of the androgen receptor gene: Definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status
-
Quigley, C. A. et al. Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. clin. endocrinol. Metab. 74, 927-933 (1992).
-
(1992)
J. clin. endocrinol. Metab
, vol.74
, pp. 927-933
-
-
Quigley, C.A.1
-
13
-
-
0025964089
-
The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene
-
Trifiro, M. et al. The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. Molec. cell. Endocrinol. 75, 37-47 (1991).
-
(1991)
Molec. cell. Endocrinol
, vol.75
, pp. 37-47
-
-
Trifiro, M.1
-
14
-
-
0022403677
-
Deletion of Huntington’s disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome
-
Gusella, J. F. et al. Deletion of Huntington’s disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature 318, 75-78 (1985).
-
(1985)
Nature
, vol.318
, pp. 75-78
-
-
Gusella, J.F.1
-
15
-
-
0023115076
-
Homozygotes for Huntington’s disease
-
Wexler, N. S. et al. Homozygotes for Huntington’s disease. Nature 326, 194-197 (1987).
-
(1987)
Nature
, vol.326
, pp. 194-197
-
-
Wexler, N.S.1
-
16
-
-
0027432418
-
Widespread expression of the human and rat Huntington’s disease gene in brain and nonneural tissues
-
Strong, T. V. et al. Widespread expression of the human and rat Huntington’s disease gene in brain and nonneural tissues. Nature Genet. 5, 259-265 (1993).
-
(1993)
Nature Genet
, vol.5
, pp. 259-265
-
-
Strong, T.V.1
-
17
-
-
0027484673
-
Huntington’s disease gene (IT15) is widely expressed in human and rat tissues
-
Li, S.-H. et al. Huntington’s disease gene (IT15) is widely expressed in human and rat tissues. Neuron 11, 985-993 (1993).
-
(1993)
Neuron
, vol.11
, pp. 985-993
-
-
Li, S.-H.1
-
18
-
-
0027759564
-
Characterization and localization of the Huntington disease gene product
-
Hoogeveen, A. T et al. Characterization and localization of the Huntington disease gene product. Hum. molec. Genet. 2, 2069-2073 (1993).
-
(1993)
Hum. molec. Genet
, vol.2
, pp. 2069-2073
-
-
Hoogeveen, A.T.1
-
19
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): Evidence for familial effects on the age of onset
-
Ranum, L. P. W. et al. Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): evidence for familial effects on the age of onset. Am. J. hum. Genet. 55, 244-252 (1994).
-
(1994)
Am. J. hum. Genet
, vol.55
, pp. 244-252
-
-
Ranum, L.P.W.1
-
20
-
-
0027366138
-
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
-
Mhatre, A. M. et al. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nature Genet. 5, 184-188 (1993).
-
(1993)
Nature Genet
, vol.5
, pp. 184-188
-
-
Mhatre, A.M.1
-
21
-
-
0024276524
-
Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif
-
Courey, A. J. & Tijan, R. Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif. Cell 55, 887-898 (1988).
-
(1988)
Cell
, vol.55
, pp. 887-898
-
-
Courey, A.J.1
Tijan, R.2
-
22
-
-
0025995937
-
Different activation domains of Sp1 govern formation of mutlimers and mediate transcriptional synergism
-
Pascal, E. & Tjian, R. Different activation domains of Sp1 govern formation of mutlimers and mediate transcriptional synergism. Genes Dev. 5, 1646-1656 (1991).
-
(1991)
Genes Dev
, vol.5
, pp. 1646-1656
-
-
Pascal, E.1
Tjian, R.2
-
23
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz, M. F., Johnson, T., Suzuki, M. & Finch, J. T. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc. natn. Acad. Sci. U. S. A. 91, 5355-5358 (1994).
-
(1994)
Proc. natn. Acad. Sci. U.S.A
, vol.91
, pp. 5355-5358
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
24
-
-
0027507667
-
Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism
-
Green, H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74, 955-956 (1993).
-
(1993)
Cell
, vol.74
, pp. 955-956
-
-
Green, H.1
-
25
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli, E. K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227, 680-685 (1970).
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, E.K.1
-
26
-
-
0027381785
-
Antigen unmasking on formalin-fixed, paraffin-embedded tissue sections
-
Cattoretti, G. et alAntigen unmasking on formalin-fixed, paraffin-embedded tissue sections. J. Pathol. 171, 83-98 (1993).
-
(1993)
J. Pathol
, vol.171
, pp. 83-98
-
-
Cattoretti, G.1
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