-
7
-
-
0025887289
-
Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, with an 8-cM subregion of chromosome 6p
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 31-41
-
-
Ranum, L.P.W.1
Duvick, L.A.2
Rich, S.S.3
Schut, L.J.4
Litt, M.5
Orr, H.T.6
-
8
-
-
0025871615
-
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three kindreds
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 23-30
-
-
Zoghbi, H.Y.1
Jodice, C.2
Sandkuyl, L.A.3
Kwiatkowski T.J., Jr.4
McCall, A.E.5
Huntoon, S.A.6
Lulli, P.7
Spadaro, M.8
Litt, M.9
Cann, H.M.10
-
9
-
-
0027486438
-
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination in nine large kindreds with a dinucleotide repeat at the AM10 locus
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 391-400
-
-
Kwiatkowski T.J., Jr.1
Orr, H.T.2
Banfi, S.3
McCall, A.E.4
Jodice, C.5
Persichetti, F.6
Novelletto, A.7
LeBorgne-DeMarquoy, F.8
Duvick, L.A.9
Frontali, M.10
-
13
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
-
14
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.-P.9
Hudson, T.10
-
15
-
-
0026523591
-
Unstable DNA region and phenotypic variation in myotonic dystrophy
-
(1992)
Nature
, vol.339
, pp. 1125-1128
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
Crow, S.4
Reardon, W.5
Buckler, A.J.6
Harper, P.S.7
Housman, D.E.8
Shaw, D.J.9
-
16
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidia, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
-
17
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
(1992)
Science
, vol.255
, pp. 1256-1259
-
-
Fu, Y.-H.1
Pizzuti, A.2
Fenwick R.G., Jr.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
De Jong, P.10
-
18
-
-
0026523591
-
Unstable DNA sequence in myotonic dystrophy
-
(1992)
Lancet
, vol.339
, pp. 1125-1128
-
-
Harley, H.G.1
Rundle, S.A.S.2
Reardon, W.3
Myring, J.4
Crow, S.5
Brook, J.D.6
Harper, P.S.7
Shaw, D.J.8
-
19
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
(1993)
Nat. Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
Kwiatkowski T.J., Jr.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
21
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
(1994)
Nat. Genet.
, vol.4
, pp. 221-226
-
-
Banfi, S.1
Servadio, A.2
Chung, M.Y.3
Kwiatkowski T.J., Jr.4
McCall, A.E.5
Duvick, L.A.6
Shen, Y.7
Roth, E.J.8
Orr, H.T.9
Zoghbi, H.Y.10
-
23
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): Evidence for familial effects on the age of onset
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 244-252
-
-
Ranum, L.P.W.1
Chung, M.-Y.2
Banfi, S.3
Bryer, A.4
Schut, L.J.5
Ramesar, R.6
Duvick, L.A.7
McCall, A.8
Subramony, S.H.9
Goldfarb, L.10
-
24
-
-
0028360849
-
Cryptic and polar variation of the Fragile X repeat could result in predisposing normal alleles
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
25
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
26
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
-
(1997)
Nature
, vol.389
, pp. 971-974
-
-
Skinner, P.J.1
Koshy, B.T.2
Cummings, C.J.3
Klement, I.A.4
Helin, K.5
Servadio, A.6
Zoghbi, H.Y.7
Orr, H.T.8
-
28
-
-
0030864463
-
Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations
-
(1997)
J. Neurosci.
, vol.17
, pp. 7385-7395
-
-
Clark, H.B.1
Burright, E.N.2
Yunis, W.S.3
Larson, S.4
Wilcox, C.5
Hartman, B.6
Matilla, A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
29
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
(1998)
Cell
, vol.95
, pp. 1-20
-
-
Klement, I.A.1
Skinner, P.J.2
Kaytor, M.D.3
Yi, H.4
Hersch, S.M.5
Clark, H.B.6
Zoghbi, H.Y.7
Orr, H.T.8
-
30
-
-
0033391428
-
Mutation of the E6-Ap ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice
-
(1999)
Neuron
, vol.24
, pp. 879-892
-
-
Cummings, C.J.1
Reinstein, E.2
Sun, Y.3
Antalffy, B.4
Jiang, Y.-H.5
Ciechanover, A.6
Orr, H.T.7
Beaudet, A.L.8
Zoghbi, H.Y.9
-
32
-
-
0034597833
-
-
(2000)
Nature
, vol.408
, pp. 101-106
-
-
Fernandez-Funez, P.1
Nino-Rosales, M.L.2
De Gouyon, B.3
She, W.-C.4
Luchak, J.M.5
Martinez, P.6
Turiegano, E.7
Benito, J.8
Capovilla, M.9
Skinner, P.J.10
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