-
1
-
-
0002984981
-
The classification of familial ataxias
-
(eds Vinken, P.J., Bruyn, G.W. & Klawans, H.L.) Elsevier Science Publishing Company, New York
-
Subramony, S.H. & Currier, R.D. The classification of familial ataxias. in Handbook of Clinical Neurology (eds Vinken, P.J., Bruyn, G.W. & Klawans, H.L.) 271-284 (Elsevier Science Publishing Company, New York, 1991).
-
(1991)
Handbook of Clinical Neurology
, pp. 271-284
-
-
Subramony, S.H.1
Currier, R.D.2
-
2
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxia: A study of 11 families, including descendants of 'The Drew Family of Walworth'
-
Harding, A.E. The clinical features and classification of the late onset autosomal dominant cerebellar ataxia: a study of 11 families, including descendants of 'The Drew Family of Walworth'. Brain 105, 1-28 (1982).
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
3
-
-
0007949225
-
The spinocerebellar degenerations
-
Zoghbi, H.Y. The spinocerebellar degenerations. Curr. Neurol. 11, 121-144 (1991).
-
(1991)
Curr. Neurol.
, vol.11
, pp. 121-144
-
-
Zoghbi, H.Y.1
-
4
-
-
0031710988
-
Unstable mutations and neurodegenerative disorders
-
Brice, A. Unstable mutations and neurodegenerative disorders. J. Neurol. 245, 505-510 (1998).
-
(1998)
J. Neurol.
, vol.245
, pp. 505-510
-
-
Brice, A.1
-
5
-
-
0031928862
-
Genes involved in hereditary ataxias
-
Klockgether, T. & Evert, B. Genes involved in hereditary ataxias. Trends Neurosci. 21, 413-418 (1998).
-
(1998)
Trends Neurosci.
, vol.21
, pp. 413-418
-
-
Klockgether, T.1
Evert, B.2
-
6
-
-
8944235350
-
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
-
Jansen, G. et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet. 13, 316-324 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 316-324
-
-
Jansen, G.1
-
7
-
-
8944259903
-
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
-
Reddy, S. et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet. 13, 325-335 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 325-335
-
-
Reddy, S.1
-
8
-
-
0032211409
-
Expanding complexity in myotonic dystrophy
-
Groenen, P. & Wieringa, B. Expanding complexity in myotonic dystrophy, Bioessays 20, 901-912 (1998).
-
(1998)
Bioessays
, vol.20
, pp. 901-912
-
-
Groenen, P.1
Wieringa, B.2
-
9
-
-
0027291764
-
Myotonic dystrophy: Absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
-
Hoffmann-Radvanyi, H. et al. Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum. Mol. Genet. 2, 1263-1266 (1993).
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1263-1266
-
-
Hoffmann-Radvanyi, H.1
-
10
-
-
0029161979
-
Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing
-
Krahe, R. et al. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28, 1-14 (1995).
-
(1995)
Genomics
, vol.28
, pp. 1-14
-
-
Krahe, R.1
-
11
-
-
0028947317
-
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
-
Taneja, K.L., McCurrach, M., Schalling, M., Housman, D. & Singer, R.H. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 128, 995-1002 (1995).
-
(1995)
J. Cell Biol.
, vol.128
, pp. 995-1002
-
-
Taneja, K.L.1
McCurrach, M.2
Schalling, M.3
Housman, D.4
Singer, R.H.5
-
12
-
-
0030841672
-
Expansion of a CUG trinucleotide repeat in the 3 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
-
Davis, B.M., McCurrach, M.E., Taneja, K.L., Singer, R.H. & Housman, D.E. Expansion of a CUG trinucleotide repeat in the 3 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc. Natl Acad. Sci. USA 94, 7388-7393 (1997).
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 7388-7393
-
-
Davis, B.M.1
McCurrach, M.E.2
Taneja, K.L.3
Singer, R.H.4
Housman, D.E.5
-
13
-
-
0029919450
-
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
-
Timchenko, L.T. et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 24, 4407-4414 (1996).
-
(1996)
Nucleic Acids Res.
, vol.24
, pp. 4407-4414
-
-
Timchenko, L.T.1
-
14
-
-
0030662379
-
Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice
-
Roberts, R. et al. Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc. Natl Acad. Sci. USA 94, 13221-13226 (1997).
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 13221-13226
-
-
Roberts, R.1
-
15
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips, A.V., Timchenko, L.T. & Cooper, T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280, 737-741 (1998).
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
16
-
-
0027256423
-
Direct detection of novel expanded trinudeotide repeats in the human genome
-
Schalling, M., Hudson, T., Buetow, K. & Housman, D. Direct detection of novel expanded trinudeotide repeats in the human genome. Nature Genet. 4, 135-139 (1993).
-
(1993)
Nature Genet.
, vol.4
, pp. 135-139
-
-
Schalling, M.1
Hudson, T.2
Buetow, K.3
Housman, D.4
-
17
-
-
0031984597
-
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
-
Koob, M.D. et al. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genet. 18, 72-75 (1998.
-
(1998)
Nature Genet.
, vol.18
, pp. 72-75
-
-
Koob, M.D.1
-
18
-
-
0031647246
-
Incidence of dominant spinocerebellar and friedreich triplet repeats among 361 ataxia families
-
Moseley, M.L. et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families Neurology 51, 1666-1671 (1998).
-
(1998)
Neurology
, vol.51
, pp. 1666-1671
-
-
Moseley, M.L.1
-
19
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung, M.-y. et al. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5, 254-258 (1993).
-
(1993)
Nature Genet.
, vol.5
, pp. 254-258
-
-
Chung, M.-Y.1
-
20
-
-
8244220324
-
Molecular and clinical correlations in spinocerebekar ataxia 2 - E study of 32 families
-
Cancel, G. et al. Molecular and clinical correlations in spinocerebeKar ataxia 2 - e study of 32 families. Hum. Mol. Genet. 6, 709-715 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 709-715
-
-
Cancel, G.1
-
21
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
-
Maruyama. H. et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 4, 807-812 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
-
22
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel, P. et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 57, 54-61 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 54-61
-
-
Maciel, P.1
-
23
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α-1A-voltage-dependent calcium channel
-
Zhuchenko, O. et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α-1A-voltage-dependent calcium channel. Nature Genet. 15, 62-69 (1997).
-
(1997)
Nature Genet.
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
-
24
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar atxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
-
Jodice, C. et al. Episodic ataxia type 2 (EA2) and spinocerebellar atxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum. Mol. Genet. 6, 1973-1978 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
-
25
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David, G. et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mol. Genet. 7, 165-170 (1998).
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 165-170
-
-
David, G.1
-
26
-
-
0026879229
-
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
-
Tsilfidis, C., MacKenzie, A.E., Mettler, G., Barcelo, J. & Korneluk, R.G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet. 1, 192-195 (1992).
-
(1992)
Nature Genet.
, vol.1
, pp. 192-195
-
-
Tsilfidis, C.1
MacKenzie, A.E.2
Mettler, G.3
Barcelo, J.4
Korneluk, R.G.5
-
27
-
-
0040175431
-
Do natural antisense transcripts make sense in eukaryotes?
-
Vanhee-Brossollet, C. & Vaquero, C. Do natural antisense transcripts make sense in eukaryotes? Gene 211, 1-9 (1998).
-
(1998)
Gene
, vol.211
, pp. 1-9
-
-
Vanhee-Brossollet, C.1
Vaquero, C.2
-
29
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA 81, 3443-3446 (1984).
-
(1984)
Proc. Natl Acad. Sci. USA
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
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