-
5
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
6
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
DeMichele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
7
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
(1997)
Hum Molec Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralerspong, S.6
Trottier, Y.7
Kish, S.J.8
Faucheux, B.9
Trouillas, P.10
Authier, F.J.11
Durr, A.12
Mandel, J.-L.13
Vescovi, A.14
Pandolfo, M.15
Koenig, M.16
-
10
-
-
0031110672
-
Frataxin fracas
-
(Letter)
-
(1997)
Nature Genet
, vol.15
, pp. 337-338
-
-
Cossee, M.1
Campuzano, V.2
Koutnikova, H.3
Fischbeck, K.4
Mandel, J.-L.5
Koenig, M.6
Bidichandani, S.I.7
Patel, P.I.8
Molte, M.D.9
Canizares, J.10
De Frutos, R.11
Pianese, L.12
Cavalcanti, F.13
Monticelli, A.14
Cocozza, S.15
Montermini, L.16
Pandolfo, M.17
-
13
-
-
0033802841
-
Atakin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains
-
(2000)
Exp Neurol
, vol.165
, Issue.2
, pp. 248-256
-
-
Fujigasaki, H.1
Uchihara, T.2
Koyano, S.3
Iwabuchi, K.4
Yagishita, S.5
Makifuchi, T.6
Nakamura, A.7
Ishida, K.8
Toru, S.9
Hirai, S.10
Ishikawa, K.11
Tanabe, T.12
Mizusawa, H.13
-
14
-
-
0035125109
-
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
-
(2001)
Am J Hum Genet
, vol.68
, Issue.2
, pp. 523-528
-
-
Gaspar, C.1
Lopes-Cendes, I.2
Hayes, S.3
Goto, J.4
Arvidsson, K.5
Dias, A.6
Silveira, I.7
Maciel, P.8
Coutinho, P.9
Lima, M.10
Zhou, Y.X.11
Soong, B.W.12
Watanabe, M.13
Giunti, P.14
Stevanin, G.15
Riess, O.16
Sasaki, H.17
Hsieh, M.18
Nicholson, G.A.19
Brunt, E.20
Higgins, J.J.21
Lauritzen, M.22
Tranebjaefg, L.23
Volpini, V.24
Wood, N.25
Ranum, L.26
Tsuji, S.27
Brice, A.28
Sequeiros, J.29
Rouleau, G.A.30
more..
-
15
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
(1993)
Nat Genet
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
Brice, A.4
Weber, J.5
Heredero, L.6
Scheufler, K.7
Riley, B.8
Allotey, R.9
Nothers, C.10
Hillermann, R.11
Lunkes, A.12
Khati, C.13
Stevanin, G.14
Hernandez, A.15
Magarino, C.16
Klockgether, T.17
Durr, A.18
Chneiweiss, H.19
Enczmann, J.20
Farrall, M.21
Beckmann, J.22
Mullan, M.23
Wernet, P.24
Agid, Y.25
Freund, H.J.26
Williamson, R.27
Auburger, G.28
Chamberlain, S.29
more..
-
22
-
-
0010008669
-
Expansion of a novel CAG repeat in the 5′ region of gene encoding a subunit of protein phosphatase 2a is associated with spinocerebellar ataxia type 12 (SCA12)
-
(1999)
Amer J Hum Genet
, vol.S65
, Issue.14 A4
-
-
Holmes, S.E.1
O'Hearn, E.2
McInnes, M.G.3
Gorelick-Feldman, D.A.4
Kleiderlein, A.5
Callahan, C.A.6
Ingersoll-Ashworth, R.G.7
Sherr, M.8
Sumner, A.J.9
Sharp, A.10
Ananth, U.11
Seltzer, W.K.12
Boss, M.A.13
Vieria-Saeker, A.-M.14
Kwak, N.G.15
Epplen, J.T.16
Riess, O.17
Ross, C.A.18
Margolis, R.L.19
-
23
-
-
0002578899
-
Hairpins and heterochromatin: How triplet repeats may lead to disease
-
(1995)
J NIH Res
, vol.7
, Issue.9
, pp. 45-48
-
-
Hopkin, K.1
-
24
-
-
0000284112
-
Cerebellar defects
-
In: Jubb KVF, Kennedy PC, Palmer N (eds); Academic Press, Inc., Harcourt Brace Jovanovich, Publishers, San Diego
-
(1993)
Pathology of Domestic Animals, 4th edn.
, pp. 282-286
-
-
Jubb, K.V.F.1
Huxtable, C.R.2
-
25
-
-
0009968122
-
The astrocytes
-
In: Jubb KVF, Kennedy PC, Palmer N (eds); Academic Press, Inc., Harcourt Brace Jovanovich, Publishers, San Diego
-
(1993)
Pathology of Domestic Animals, 4th edn.
, pp. 304-306
-
-
Jubb, K.V.F.1
Huxtable, C.R.2
-
26
-
-
0000284112
-
Nonmyelinic spongiform encephalomyelopathies
-
In: Jubb KVF, Kennedy PC, Palmer N (eds); Academic Press, Inc., Harcourt Brace Jovanovich, Publishers, San Diego
-
(1993)
Pathology of Domestic Animals, 4th edn.
, pp. 380
-
-
Jubb, K.V.F.1
Huxtable, C.R.2
-
31
-
-
16144363213
-
An expanded CAG repeat sequence in spinocerebellar ataxia type 7
-
(1996)
Genome Res
, vol.6
, Issue.10
, pp. 965-971
-
-
Lindblad, K.1
Savontaus, M.L.2
Stevanin, G.3
Holmberg, M.4
Digre, K.5
Zander, C.6
Ehrsson, H.7
David, G.8
Benomar, A.9
Nikoskelainen, E.10
Trottier, Y.11
Holmgren, G.12
Ptacek, L.J.13
Anttinen, A.14
Brice, A.15
Schalling, M.16
-
37
-
-
0028819669
-
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1061-1067
-
-
Montermini, L.1
Rodius, F.2
Pianese, L.3
Molto, M.D.4
Cossee, M.5
Campuzano, V.6
Cavalcanti, F.7
Monticelli, A.8
Palau, F.9
Gyapay, G.10
Wenhert, M.11
Zara, F.12
Patel, P.I.13
Cocozza, S.14
Koenig, M.15
Pandolfo, M.16
-
39
-
-
0010044672
-
-
NIH Publication No. 85-2716: Prepared by the Office of Scientific and Health Reports, National Institute of Neurological and Communicative Disorders and Stroke, US Department of Health and Human Services, Public Health Service, National Institutes of Health
-
(1985)
-
-
-
41
-
-
16044370232
-
2+ channel gene CACNL1A4
-
(1996)
Cell
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
Van Eijk, R.4
Oefner, P.J.5
Hoffman, S.M.6
Lamerdin, J.E.7
Mohrenweiser, H.W.8
Bulman, D.E.9
Ferrari, M.10
Haan, J.11
Lindhout, D.12
Van Ommen, G.J.13
Hofker, M.H.14
Ferrari, M.D.15
Frants, R.R.16
-
43
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
Kwiatkowski, T.J.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
-
45
-
-
0028941326
-
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
-
(1995)
Ann Neurol
, vol.37
, pp. 359-362
-
-
Palau, F.1
De Michele, G.2
Vilchez, J.J.3
Pandolfo, M.4
Monros, E.5
Cocozza, S.6
Smeyers, P.7
Lopez-Arlandis, J.8
Campanella, G.9
De Donato, S.10
Filla, A.11
-
49
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Nature Genet
, vol.17
, pp. 215-217
-
-
Rotig, A.1
De Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
51
-
-
0029043182
-
Stunted morphologies of cerebellar Purkinje cells in lurcher and staggerer mice are cell-intrinsic effects of the mutant genes
-
(1995)
J Comp Neurol
, vol.357
, pp. 65-75
-
-
Soha, J.M.1
Herrup, K.2
-
53
-
-
0028535670
-
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q
-
(1994)
Neurobiol Dis
, vol.1
, Issue.1-2
, pp. 79-82
-
-
Stevanin, G.1
Sousa, P.S.2
Cancel, G.3
Durr, A.4
Dubourg, O.5
Nicholson, G.A.6
Weissenbach, J.7
Jardim, E.8
Agid, Y.9
Cassa, E.10
Brice, A.11
-
54
-
-
0028873803
-
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2
-
(1995)
Am J Hum Genet
, vol.56
, Issue.1
, pp. 193-201
-
-
Stevanin, G.1
Cancel, G.2
Durr, A.3
Chneiweiss, H.4
Dubourg, O.5
Weissenbach, J.6
Cann, H.M.7
Agid, Y.8
Brice, A.9
-
55
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
(1993)
Nat Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
Shimazaki, H.7
Soutome, M.8
Endo, K.9
Ohta, S.10
Kagawa, Y.11
Kanazawa, I.12
Mizuno, Y.13
Yoshida, M.14
Yuasa, T.15
Horikawa, Y.16
Oyanagi, K.17
Nagai, H.18
Kondo, T.19
Inuzuka, T.20
Onodera, O.21
Tsuji, S.22
more..
-
56
-
-
0023669586
-
A novel progressive spongiform encephalopathy in cattle
-
(1987)
Vet Rec
, vol.121
, pp. 419-420
-
-
Wells, G.A.H.1
Scott, A.C.2
Johnson, C.T.3
Gunning, R.F.4
Hancock, R.D.5
Jeffrey, M.6
Dawso, M.7
Bradley, R.8
-
58
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-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
-
59
-
-
0009968124
-
A comparative study of the incidence of vacuolated neurons in the medulla from apparently healthy sheep of various breeds
-
(1958)
J Comp Path
, vol.68
, pp. 411-415
-
-
Zlotnik, I.1
Rennie, J.C.2
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