-
1
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
LaSpada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352:1991;77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
Laspada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes
-
A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes. Cell. 72:1993;971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
3
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr H.T., Chung M.Y., Banfi S.et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:1993;221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
-
4
-
-
0028143527
-
CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y., Okamoto T., Taniwaki M.et al. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 8:1994;221-227.
-
(1994)
Nat Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
5
-
-
0031012399
-
Autosomal dominant cerebellat ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel
-
Zhuchenko O., Bailey J., Bonnen P.et al. Autosomal dominant cerebellat ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel. Nat Genet. 15:1997;62-69.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
6
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G., Durr A., Stevanin G.et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet. 7:1998;165-170.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 165-170
-
-
David, G.1
Durr, A.2
Stevanin, G.3
-
7
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R., Ikeuchi T., Onoder O.et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 6:1994;9-13.
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onoder, O.3
-
8
-
-
0030700891
-
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
-
Andrew S.E., Goldberg Y.P., Hayden M.R. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet. 6:1997;2005-2010.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2005-2010
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Hayden, M.R.3
-
9
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz M.F., Johnson T., Suzuki M.et al. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci USA. 91:1994;5355-5358.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 5355-5358
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
-
10
-
-
23444458415
-
Transcriptional activation modulated by homopolymeric glutamine and proline stretches
-
Gerber H.P., Seipel K., Georgiev O.et al. Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science. 263:1994;808-811.
-
(1994)
Science
, vol.263
, pp. 808-811
-
-
Gerber, H.P.1
Seipel, K.2
Georgiev, O.3
-
11
-
-
0030694396
-
Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility
-
Tut T.G., Ghadessy F.J., Trifiro M.A.et al. Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J Clin Endocrinol Metab. 82:1997;3777-3782.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3777-3782
-
-
Tut, T.G.1
Ghadessy, F.J.2
Trifiro, M.A.3
-
12
-
-
0027960920
-
The first analysis of exon 1 (transactivation domain) of the androgen receptor gene in infertile men with oligospermia or azoospermia
-
Puscheck E.E., Behzadian M.A., McDonough P.G. The first analysis of exon 1 (transactivation domain) of the androgen receptor gene in infertile men with oligospermia or azoospermia. Fertil Steril. 62:1994;1035-1038.
-
(1994)
Fertil Steril
, vol.62
, pp. 1035-1038
-
-
Puscheck, E.E.1
Behzadian, M.A.2
McDonough, P.G.3
-
13
-
-
0031266759
-
Preliminary investigations on androgen receptor gene mutations in infertile men
-
Tincello D.G., Saunders P.T.K., Hargreave T.B. Preliminary investigations on androgen receptor gene mutations in infertile men. Hum Mol Genet. 3:1997;941-943.
-
(1997)
Hum Mol Genet
, vol.3
, pp. 941-943
-
-
Tincello, D.G.1
Saunders, P.T.K.2
Hargreave, T.B.3
-
14
-
-
0031985869
-
Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy
-
Butler R., Leigh P.N., McPhaul M.J.et al. Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum Mol Genet. 7:1998;121-127.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 121-127
-
-
Butler, R.1
Leigh, P.N.2
McPhaul, M.J.3
-
15
-
-
0031948607
-
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy
-
Merry D.E., Kobayashi Y., Bailey C.K.et al. Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Hum Mol Genet. 7:1998;693-701.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 693-701
-
-
Merry, D.E.1
Kobayashi, Y.2
Bailey, C.K.3
-
16
-
-
0024999659
-
X-linked spinal muscular atrophy (Kennedy's syndrome): A kindred with hypobetalipo-proteinemia
-
Warner C.L., Servidei S., Lange D.J.et al. X-linked spinal muscular atrophy (Kennedy's syndrome): a kindred with hypobetalipo-proteinemia. Arch Neurol. 47:1990;1117-1120.
-
(1990)
Arch Neurol
, vol.47
, pp. 1117-1120
-
-
Warner, C.L.1
Servidei, S.2
Lange, D.J.3
-
17
-
-
0030985156
-
The complex pathology of trinucleotide repeats
-
Reddy P.S., Housman D.E. The complex pathology of trinucleotide repeats. Curr Opin Cell Biol. 9:1997;364-372.
-
(1997)
Curr Opin Cell Biol
, vol.9
, pp. 364-372
-
-
Reddy, P.S.1
Housman, D.E.2
-
18
-
-
0032563245
-
Evolution of simple repeats in DNA and their relation to human disease
-
Djian P. Evolution of simple repeats in DNA and their relation to human disease. Cell. 94:1998;155-160.
-
(1998)
Cell
, vol.94
, pp. 155-160
-
-
Djian, P.1
|