-
1
-
-
0001294843
-
Unusual form of cerebellar ataxia: Combined dentato-rubral and pallido-Luysian degeneration
-
Smith, J. K., Gonda, V. E. & Malamud, N. Unusual form of cerebellar ataxia: combined dentato-rubral and pallido-Luysian degeneration. Neurology 8, 205-209 (1958).
-
(1958)
Neurology
, vol.8
, pp. 205-209
-
-
Smith, J.K.1
Gonda, V.E.2
Malamud, N.3
-
2
-
-
0020064620
-
Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy
-
Naito, H. & Oyanagi, S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 32, 798-807 (1982).
-
(1982)
Neurology
, vol.32
, pp. 798-807
-
-
Naito, H.1
Oyanagi, S.2
-
3
-
-
0023680089
-
Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathological variants in a family
-
Takahashi, H. et al. Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathological variants in a family. Neurology 38, 1065-1070 (1988).
-
(1988)
Neurology
, vol.38
, pp. 1065-1070
-
-
Takahashi, H.1
-
4
-
-
0028242368
-
Anticipation in hereditary dentatorubral-pallidoluysian atrophy
-
Sano, A. et al. Anticipation in hereditary dentatorubral-pallidoluysian atrophy. Hum. Genet. 93, 699-702 (1994).
-
(1994)
Hum. Genet
, vol.93
, pp. 699-702
-
-
Sano, A.1
-
5
-
-
0028169738
-
The Haw River syndrome: Dentatorubropallidoluisian atrophy(DRPLA) in an African-American family
-
Burke, J. R. et al. The Haw River syndrome: dentatorubropallidoluisian 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
-
6
-
-
0028815025
-
DNA analysis in hereditary dentatorubal-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure, O. et al. DNA analysis in hereditary dentatorubal-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45, 143-149 (1995).
-
(1995)
Neurology
, vol.45
, pp. 143-149
-
-
Komure, O.1
-
7
-
-
0025021599
-
Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington’s disease locus
-
Kondo, I. Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington’s disease locus. J. med. Genet. 27, 105-108 (1990).
-
(1990)
J. med. Genet
, vol.27
, pp. 105-108
-
-
Kondo, I.1
-
8
-
-
0027297703
-
Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
-
Li, S. H., Mclnnis, M. G., Margolis, R. L., Antonarakis, S. E. & Ross, C. A. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16, 572-579 (1993).
-
(1993)
Genomics
, vol.16
, pp. 572-579
-
-
Li, S.H.1
McLnnis, M.G.2
Margolis, R.L.3
Antonarakis, S.E.4
Ross, C.A.5
-
9
-
-
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
-
10
-
-
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
-
11
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu, Y. H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058 (1991).
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
-
12
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk, A. J. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 914 (1991).
-
(1991)
Cell
, vol.65
, pp. 914
-
-
Verkerk, A.J.1
-
13
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu, Y. H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
-
14
-
-
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, K. 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, K.H.5
-
15
-
-
0027480960
-
The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes
-
The Huntington’s Disease Collaborative Research Group. 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
-
-
-
16
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat inspinocerebellar ataxia type 1
-
Orr, H. T. et al. Expansion of an unstable trinucleotide CAG repeat inspinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
-
17
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight, S. J. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74, 127-134 (1993).
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.1
-
18
-
-
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, 221-228 (1994).
-
(1994)
Nature Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
-
19
-
-
0028099702
-
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
-
Parrish, J. E. et al. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet. 8, 229-235 (1994).
-
(1994)
Nature Genet
, vol.8
, pp. 229-235
-
-
Parrish, J.E.1
-
20
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M. et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822 (1991).
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
-
21
-
-
0027236971
-
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
-
Verheij, C. et al. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363, 722-724 (1993).
-
(1993)
Nature
, vol.363
, pp. 722-724
-
-
Verheij, C.1
-
22
-
-
0027246344
-
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
-
Fu, Y. H. et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science260, 235-238 (1993).
-
(1993)
Science
, vol.260
, pp. 235-238
-
-
Fu, Y.H.1
-
23
-
-
0027525217
-
Myotonic dystrophy kinase is a component of neuromuscular junctions
-
van der Ven, P. F. et al. Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum. molec. Genet. 2, 1889-1894 (1993).
-
(1993)
Hum. molec. Genet
, vol.2
, pp. 1889-1894
-
-
van der Ven, P.F.1
-
24
-
-
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
-
25
-
-
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
-
26
-
-
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
-
27
-
-
0027366138
-
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
-
Mhatre, A. N. 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.N.1
-
28
-
-
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
-
29
-
-
0028060244
-
Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy(DRPLA)
-
Nagafuchi, S. et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy(DRPLA). Nature Genet. 8, 177-182 (1994).
-
(1994)
Nature Genet
, vol.8
, pp. 177-182
-
-
Nagafuchi, S.1
-
30
-
-
0024603237
-
A common RNA recognition motifidentified within a defined U1 RNA binding domain of the 70K U1 snRNP protein
-
Query, C. C., Bentley, R. C. & Keene, J. D. A common RNA recognition motifidentified within a defined U1 RNA binding domain of the 70K U1 snRNP protein. Cell 57, 89-101 (1989).
-
(1989)
Cell
, vol.57
, pp. 89-101
-
-
Query, C.C.1
Bentley, R.C.2
Keene, J.D.3
-
31
-
-
0026665379
-
Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy
-
Matsuura, T. et al. Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy. Neurology 42, 1724-6 (1992).
-
(1992)
Neurology
, vol.42
, pp. 1724-1726
-
-
Matsuura, T.1
-
32
-
-
0027377580
-
FMR1 protein: Conserved RNP family domains and selective RNA binding
-
Ashley, C., Jr., Wilkinson, K. D., Reines, D. & Warren, S. T. FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262, 563-566 (1993).
-
(1993)
Science
, vol.262
, pp. 563-566
-
-
Ashley, C.1
Wilkinson, K.D.2
Reines, D.3
Warren, S.T.4
-
33
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
-
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J. P. & Mandel, J. L. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genet. 4, 335-340 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
Bellocq, J.P.4
Mandel, J.L.5
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