-
2
-
-
0028067442
-
On an autosomal dominant form of retinal-cerebellar degeneration: An autopsy study of five patients in one family
-
(1994)
Acta Neuropathol. (Berl.)
, vol.88
, pp. 277-286
-
-
Martin, J.J.1
Van Regemorter, N.2
Krols, L.3
Brucher, J.M.4
De Barsy, T.5
Szliwowski, H.6
Evrard, P.7
Ceuterick, C.8
Tassignon, M.J.9
Smet-Dieleman, H.10
-
3
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
(1997)
Nat. Genet.
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Durr, A.4
Yvert, G.5
Cancel, G.6
Weber, C.7
Imbert, G.8
Saudou, F.9
Antoniou, E.10
-
4
-
-
0027164698
-
Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1
-
(1993)
Nat. Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.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
-
5
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
(1996)
Nat. Genet.
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
Weber, C.7
Mandel, J.L.8
Cancel, G.9
Abbas, N.10
-
6
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
(1996)
Nat. Genet.
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
Gispert, S.4
Chen, X.N.5
Lopes-Cendes, I.6
Pearlman, S.7
Starkman, S.8
Orozco-Diaz, G.9
Lunkes, A.10
-
7
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
(1996)
Nat. Genet.
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
Wakisaka, A.7
Tashiro, K.8
Ishida, Y.9
Ikeuchi, T.10
-
8
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
(1994)
Nat. Genet.
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
-
9
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α 1A-voltage-dependent calcium channel
-
(1997)
Nat. Genet.
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
-
10
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
Ikeda, S.7
Tsuji, S.8
Kanazawa, I.9
-
12
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Research Collaborative Group
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
13
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
(1994)
Nat. Genet.
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
-
14
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
(1994)
Nat. Genet.
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takedo, T.7
Tadokoro, K.8
Kondo, I.9
Muruyama, N.10
-
16
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 913-918
-
-
Holmberg, M.1
Duyckaerts, C.2
Durr, A.3
Cancel, G.4
Gourfinkel-An, I.5
Damier, P.6
Faucheux, B.7
Trottier, Y.8
Hirsch, E.C.9
Agid, Y.10
-
19
-
-
0035849879
-
Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats
-
(2001)
Nature
, vol.412
, pp. 143-144
-
-
Perutz, M.F.1
Windle, A.H.2
-
21
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
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
-
23
-
-
0035394668
-
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1511-1518
-
-
Cummings, C.J.1
Sun, Y.2
Opal, P.3
Antalffy, B.4
Mestril, R.5
Orr, H.T.6
Dillmann, W.H.7
Zoghbi, H.Y.8
-
25
-
-
0035937523
-
Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity
-
(2001)
Science
, vol.291
, pp. 2423-2428
-
-
Nucifora F.C., Jr.1
Sasaki, M.2
Peters, M.F.3
Huang, H.4
Cooper, J.K.5
Yamada, M.6
Takahashi, H.7
Tsuji, S.8
Troncoso, J.9
Dawson, V.L.10
-
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
-
29
-
-
0032945938
-
Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 731-741
-
-
Stenoien, D.L.1
Cummings, C.J.2
Adams, H.P.3
Mancini, M.G.4
Patel, K.5
DeMartino, G.N.6
Marcelli, M.7
Weigel, N.L.8
Mancini, M.A.9
-
31
-
-
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.5
Ciechanover, A.6
Orr, H.T.7
Beaudet, A.L.8
Zoghbi, H.Y.9
-
32
-
-
0033639208
-
Distribution of ataxin-7 in normal human brain and retina
-
(2000)
Brain
, vol.123
, pp. 2519-2530
-
-
Cancel, G.1
Duyckaerts, C.2
Holmberg, M.3
Zander, C.4
Yvert, G.5
Lebre, A.S.6
Ruberg, M.7
Faucheux, B.8
Agid, Y.9
Hirsch, E.10
-
36
-
-
0032535483
-
The ubiquitin-proteasome pathway: On protein death and cell life
-
(1998)
EMBO J.
, vol.17
, pp. 7151-7160
-
-
Ciechanover, A.1
-
39
-
-
0032538881
-
Localization of the 26S proteasome during mitosis and meiosis in fission yeast
-
(1998)
EMBO J.
, vol.17
, pp. 6465-6476
-
-
Wilkinson, C.R.1
Wallace, M.2
Morphew, M.3
Perry, P.4
Allshire, R.5
Javerzat, J.P.6
McIntosh, J.R.7
Gordon, C.8
-
42
-
-
0028158682
-
Retinoic acid regulates aberrant nuclear localization of PML-RAR α in acute promyelocytic leukemia cells
-
(1994)
Cell
, vol.76
, pp. 345-356
-
-
Weis, K.1
Rambaud, S.2
Lavau, C.3
Jansen, J.4
Carvalho, T.5
Carmo-Fonseca, M.6
Lamond, A.7
Dejean, A.8
-
49
-
-
9544239345
-
Involvement of the proteasome in the programmed cell death of NGF-deprived sympathetic neurons
-
(1996)
EMBO J.
, vol.15
, pp. 3845-3852
-
-
Sadoul, R.1
Fernandez, P.A.2
Quiquerez, A.L.3
Martinou, I.4
Maki, M.5
Schroter, M.6
Becherer, J.D.7
Irmler, M.8
Tschopp, J.9
Martinou, J.C.10
-
50
-
-
0035870881
-
Inducible expression of mutant α-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 919-926
-
-
Tanaka, Y.1
Engelender, S.2
Igarashi, S.3
Rao, R.K.4
Wanner, T.5
Tanzi, R.E.6
Sawa, A.7
Dawson, T.M.8
Ross, C.A.9
-
51
-
-
0034646426
-
Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease
-
(2000)
Proc. Natl Acad. Sci. USA
, vol.97
, pp. 2898-2903
-
-
Wyttenbach, A.1
Carmichael, J.2
Swartz, J.3
Furlong, R.A.4
Narain, Y.5
Rankin, J.6
Rubinsztein, D.C.7
-
52
-
-
0032846416
-
Intragenic deletion in the gene encoding ubiquitin C-terminal hydrolase in gad mice
-
(1999)
Nat. Genet.
, vol.23
, pp. 47-51
-
-
Saigoh, K.1
Wang, Y.L.2
Suh, J.G.3
Yamanishi, T.4
Sakai, Y.5
Kiyosawa, H.6
Harada, T.7
Ichihara, N.8
Wakana, S.9
Kikuchi, T.10
-
53
-
-
0032721512
-
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
-
(1999)
Nat. Genet.
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
Paternotte, C.4
Samson, D.5
Artiguenave, F.6
Davoine, C.S.7
Cruaud, C.8
Durr, A.9
Wincker, P.10
|