-
2
-
-
0028169646
-
Autosomal dominant cerebellar ataxia with retinal degeneration: Clinical, neuropathological and genetic analysis of a large kindred
-
Gouw LG, Digre KB, Harris CP, Haines JH, Ptáček LJ (1994) Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathological and genetic analysis of a large kindred. Neurology 44:1441-1447
-
(1994)
Neurology
, vol.44
, pp. 1441-1447
-
-
Gouw, L.G.1
Digre, K.B.2
Harris, C.P.3
Haines, J.H.4
Ptáček, L.J.5
-
3
-
-
6844239536
-
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
-
Del-Favero J et al (1998) Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet 7:177-186
-
(1998)
Hum Mol Genet
, vol.7
, pp. 177-186
-
-
Del-Favero, J.1
-
4
-
-
6844252925
-
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
-
Gouw LG et al (1998) Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 7:525-532
-
(1998)
Hum Mol Genet
, vol.7
, pp. 525-532
-
-
Gouw, L.G.1
-
5
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G et al (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
-
6
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G et al (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7:165-170
-
(1998)
Hum Mol Genet
, vol.7
, pp. 165-170
-
-
David, G.1
-
7
-
-
0029048660
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
-
Gouw LG et al (1995) Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 10:89-93
-
(1995)
Nat Genet
, vol.10
, pp. 89-93
-
-
Gouw, L.G.1
-
8
-
-
0031714729
-
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
-
Benton CS et al (1998) Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51:1081-1086
-
(1998)
Neurology
, vol.51
, pp. 1081-1086
-
-
Benton, C.S.1
-
9
-
-
0030795968
-
The CAG/polyglutamine tract diseases: Gene products and molecular pathogenesis
-
Koshy BT, Zoghbi HY (1997) The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol 7:927-942
-
(1997)
Brain Pathol
, vol.7
, pp. 927-942
-
-
Koshy, B.T.1
Zoghbi, H.Y.2
-
10
-
-
0030985156
-
The complex pathology of trinucleotide repeats
-
Reddy PS, Housman DE (1997) The complex pathology of trinucleotide repeats. Curr Opin Cell Biol 9:364-372
-
(1997)
Curr Opin Cell Biol
, vol.9
, pp. 364-372
-
-
Reddy, P.S.1
Housman, D.E.2
-
11
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier Y et al (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378:403-406
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
-
12
-
-
0033392351
-
Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody
-
Mauger C et al (1999) Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody. Brain Res Mol Brain Res 74:35-43
-
(1999)
Brain Res Mol Brain Res
, vol.74
, pp. 35-43
-
-
Mauger, C.1
-
13
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
-
Holmberg M et al (1998) Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 7:913-918
-
(1998)
Hum Mol Genet
, vol.7
, pp. 913-918
-
-
Holmberg, M.1
-
15
-
-
0003448569
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor
-
Harlow, Lane (eds) (1999) Using antibodies: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor
-
(1999)
Using Antibodies: A Laboratory Manual
-
-
Harlow1
Lane2
-
16
-
-
0033919033
-
Expression analysis of ataxin-7 mRNA and protein in human brain: Evidence for a widespread distribution and focal protein accumulation
-
Lindenberg KS, Yvert G, Muller K, Landwehrmeyer GB (2000) Expression analysis of ataxin-7 mRNA and protein in human brain: evidence for a widespread distribution and focal protein accumulation. Brain Pathol 10:385-394
-
(2000)
Brain Pathol
, vol.10
, pp. 385-394
-
-
Lindenberg, K.S.1
Yvert, G.2
Muller, K.3
Landwehrmeyer, G.B.4
-
17
-
-
0032858212
-
Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7
-
Kaytor MD et al (1999) Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Hum Mol Genet 8:1657-1664
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1657-1664
-
-
Kaytor, M.D.1
-
18
-
-
0032475877
-
Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or beneficial?
-
Sisodia SS (1998) Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell 95:1-4
-
(1998)
Cell
, vol.95
, pp. 1-4
-
-
Sisodia, S.S.1
-
19
-
-
0031659271
-
Transgenic mice in the study of polyglutamine repeat expansion diseases
-
Bates GP, Mangiarini L, Davies SW (1998) Transgenic mice in the study of polyglutamine repeat expansion diseases. Brain Pathol 8:699-714
-
(1998)
Brain Pathol
, vol.8
, pp. 699-714
-
-
Bates, G.P.1
Mangiarini, L.2
Davies, S.W.3
-
20
-
-
0031446233
-
Intranuclear neuronal inclusions: A common pathogenic mechanism for glutamine-repeat neurodegenerative diseases?
-
Ross CA (1997) Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases? Neuron 19:1147-1150
-
(1997)
Neuron
, vol.19
, pp. 1147-1150
-
-
Ross, C.A.1
-
21
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement IA et al (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95:41-53
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
-
22
-
-
0032475931
-
Huntington acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
-
Saudou F, Finkbeiner S, Devys D, Greenberg ME (1998) Huntington acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95:55-66
-
(1998)
Cell
, vol.95
, pp. 55-66
-
-
Saudou, F.1
Finkbeiner, S.2
Devys, D.3
Greenberg, M.E.4
-
23
-
-
0033391428
-
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in DCA1 mice
-
Cummings CJ et al (1999) Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in DCA1 mice. Neuron 24:879-892
-
(1999)
Neuron
, vol.24
, pp. 879-892
-
-
Cummings, C.J.1
-
24
-
-
0032590053
-
Huntington aggregates may not predict neuronal death in Huntington's disease
-
Kuemmerle S et al (1999) Huntington aggregates may not predict neuronal death in Huntington's disease. Ann Neurol 46:842-849
-
(1999)
Ann Neurol
, vol.46
, pp. 842-849
-
-
Kuemmerle, S.1
-
25
-
-
0033679283
-
Polyglutamine expansions: Proteolysis, chaperones, and the dangers of promiscuity
-
Ferrigno P, Silver PA (2000) Polyglutamine expansions: proteolysis, chaperones, and the dangers of promiscuity. Neuron 26:9-12
-
(2000)
Neuron
, vol.26
, pp. 9-12
-
-
Ferrigno, P.1
Silver, P.A.2
-
26
-
-
0029187287
-
Autosomal dominant spinocerebellar atrophy with retinal degeneration
-
Ptáček LJ (1995) Autosomal dominant spinocerebellar atrophy with retinal degeneration. Clin Neurosci 3:28-32
-
(1995)
Clin Neurosci
, vol.3
, pp. 28-32
-
-
Ptáček, L.J.1
|