-
1
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
2
-
-
16044370232
-
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
-
Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996;87:543-52.
-
(1996)
Cell
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
-
3
-
-
16944366032
-
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2, and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
-
Ishikawa K, Tanaka H, Saito M, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2, and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 1997;61:336-16.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 336-416
-
-
Ishikawa, K.1
Tanaka, H.2
Saito, M.3
-
4
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
-
Matsuyama Z, Kawakami H, Maruyama H, et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997;6:1283-7.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1283-1287
-
-
Matsuyama, Z.1
Kawakami, H.2
Maruyama, H.3
-
5
-
-
8544235014
-
SCA6 is caused by moderate CAG expansion in the α1A-voltage-dependent calcium channel gene
-
Reiss O, Schöls L, Böttger H, et al. SCA6 is caused by moderate CAG expansion in the α1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997;6:1289-93.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1289-1293
-
-
Reiss, O.1
Schöls, L.2
Böttger, H.3
-
6
-
-
0029882009
-
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-1, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus
-
Subramony SH, Fratkin JD, Manyam BV, et al. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-1, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus. Mov Disorders 1996;11:174-80.
-
(1996)
Mov Disorders
, vol.11
, pp. 174-180
-
-
Subramony, S.H.1
Fratkin, J.D.2
Manyam, B.V.3
-
7
-
-
0031454530
-
Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
-
Gomez C, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997;42:933-50.
-
(1997)
Ann Neurol
, vol.42
, pp. 933-950
-
-
Gomez, C.1
Thompson, R.M.2
Gammack, J.T.3
-
9
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
-
Skinner OJ, Koshy BT, Cummings CJ, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-4.
-
(1997)
Nature
, vol.389
, pp. 971-974
-
-
Skinner, O.J.1
Koshy, B.T.2
Cummings, C.J.3
-
10
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997;19:333-44.
-
(1997)
Neuron
, vol.19
, pp. 333-344
-
-
Paulson, H.L.1
Perez, M.K.2
Trottier, Y.3
-
11
-
-
17344362229
-
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
-
Igarashi S, Koide R, Shimohata T, et al. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 1998;18:111-17.
-
(1998)
Nat Genet
, vol.18
, pp. 111-117
-
-
Igarashi, S.1
Koide, R.2
Shimohata, T.3
-
12
-
-
0022387570
-
Studies on neurotransmitter markers and neuronal cell density in the cerebellar system in olivopontocerebellar atrophy and cortical cerebellar atrophy
-
Kanazawa I, Kwak S, Sasaki H, et al. Studies on neurotransmitter markers and neuronal cell density in the cerebellar system in olivopontocerebellar atrophy and cortical cerebellar atrophy. J Neurol Sci 1985;71:193-208.
-
(1985)
J Neurol Sci
, vol.71
, pp. 193-208
-
-
Kanazawa, I.1
Kwak, S.2
Sasaki, H.3
-
13
-
-
0010260799
-
A family of cortical cerebellar atrophy (Holmes): A clinical and neuropathological study
-
Mizusawa H, Yoshizawa K, Kanazawa I, et al. A family of cortical cerebellar atrophy (Holmes): a clinical and neuropathological study. Neurol Med 1987;26:257-64.
-
(1987)
Neurol Med
, vol.26
, pp. 257-264
-
-
Mizusawa, H.1
Yoshizawa, K.2
Kanazawa, I.3
-
14
-
-
0029782230
-
Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families
-
Ishikawa K, Mizusawa H, Saito M, et al. Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families. Brain 1996;119:1173-82.
-
(1996)
Brain
, vol.119
, pp. 1173-1182
-
-
Ishikawa, K.1
Mizusawa, H.2
Saito, M.3
-
15
-
-
0016154274
-
The effect of age upon the main nucleus of the inferior olive in human
-
Monagle RD, Brody H. The effect of age upon the main nucleus of the inferior olive in human. J Comp Neurol 1974; 155:61-6.
-
(1974)
J Comp Neurol
, vol.155
, pp. 61-66
-
-
Monagle, R.D.1
Brody, H.2
-
16
-
-
0025734388
-
Localization of P-type calcium channels in the central nervous system
-
Hillman D, Chen S, Aung TT, et al. Localization of P-type calcium channels in the central nervous system. Proc Natl Acad Sci USA 1991;88:7076-80.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 7076-7080
-
-
Hillman, D.1
Chen, S.2
Aung, T.T.3
-
17
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of 'the Drew family of Walworth'
-
Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of 'the Drew family of Walworth'. Brain 1982;105:1-28.
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
18
-
-
0030679611
-
Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
-
Matsumura R, Futamura N, Fujimoto Y, et al. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49:1238-43.
-
(1997)
Neurology
, vol.49
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
-
19
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin G, Dürr A, David G, et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997;49:1243-6.
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Dürr, A.2
David, G.3
-
20
-
-
0030699138
-
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations
-
Geschwind DH, Perlman S, Figueroa KP, et al. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. Neurology 1997;49: 1247-51.
-
(1997)
Neurology
, vol.49
, pp. 1247-1251
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, K.P.3
-
21
-
-
0031442152
-
Spinocerebellar ataxia type 6: CAG repeat expansion in α1A voltage-dependent calcium channel gene and clinical variations in Japanese population
-
Ikeuchi T, Takano H, Koide R, et al. Spinocerebellar ataxia type 6: CAG repeat expansion in α1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997;42:879-84.
-
(1997)
Ann Neurol
, vol.42
, pp. 879-884
-
-
Ikeuchi, T.1
Takano, H.2
Koide, R.3
-
22
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNAIA gene on chromosome 19p
-
Jodice C, Mantuano E, Veneziano L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNAIA gene on chromosome 19p. Hum Mol Genet 1997;6:1973-8.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Veneziano, L.3
-
23
-
-
0001166732
-
Cerebello-olivary atrophy (Holmes type)
-
Vinken PJ, Bruyn GW, eds. Amsterdam: North Holland
-
Eadie MJ. Cerebello-olivary atrophy (Holmes type). In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Vol 21. Amsterdam: North Holland 1975:403-14.
-
(1975)
Handbook of Clinical Neurology
, vol.21
, pp. 403-414
-
-
Eadie, M.J.1
-
24
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role of polyglutamine-induced disease in SCA1 transgenic mice
-
Klement IA, Skinner PJ, Kaytor MD, et al. Ataxin-1 nuclear localization and aggregation: role of polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998;95:41-53.
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
Skinner, P.J.2
Kaytor, M.D.3
-
25
-
-
0032475931
-
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
-
Saudou F, Finkbeiner S, Devys D, et al. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998;95:55-66.
-
(1998)
Cell
, vol.95
, pp. 55-66
-
-
Saudou, F.1
Finkbeiner, S.2
Devys, D.3
-
26
-
-
0028339385
-
Somatic and gonadal mosaicism of Huntington's disease gene CAG repeat in brain and sperm
-
Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of Huntington's disease gene CAG repeat in brain and sperm. Nat Genet 1994;6:409-14.
-
(1994)
Nat Genet
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
-
27
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong SS, McCall AE, Cota J, et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1995;10: 344-9.
-
(1995)
Nat Genet
, vol.10
, pp. 344-349
-
-
Chong, S.S.1
McCall, A.E.2
Cota, J.3
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