-
1
-
-
0031606735
-
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease
-
Cancel G, Gourfinkel-An I, Stevanin G, Didierjean O, Abbas N, Hirsch E, Agid Y, Brice A (1998) Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease. Hum Mutat 11 : 23-27
-
(1998)
Hum Mutat
, vol.11
, pp. 23-27
-
-
Cancel, G.1
Gourfinkel-An, I.2
Stevanin, G.3
Didierjean, O.4
Abbas, N.5
Hirsch, E.6
Agid, Y.7
Brice, A.8
-
2
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet 10 : 344-350
-
(1995)
Nat Genet
, vol.10
, pp. 344-350
-
-
Chong, S.S.1
McCall, A.E.2
Cota, J.3
Subramony, S.H.4
Orr, H.T.5
Hughes, M.R.6
Zoghbi, H.Y.7
-
3
-
-
0031838352
-
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
-
Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY (1998) Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 19 : 148-154
-
(1998)
Nat Genet
, vol.19
, pp. 148-154
-
-
Cummings, C.J.1
Mancini, M.A.2
Antalffy, B.3
DeFranco, D.B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
4
-
-
0032501740
-
Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?
-
Davies SW, Beardsall K, Turmaine M, DiFiglia M, Aronin N, Bates GP (1998) Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions? Lancet 351 : 131-133
-
(1998)
Lancet
, vol.351
, pp. 131-133
-
-
Davies, S.W.1
Beardsall, K.2
Turmaine, M.3
DiFiglia, M.4
Aronin, N.5
Bates, G.P.6
-
5
-
-
18544410106
-
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
-
Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90 : 537-548
-
(1997)
Cell
, vol.90
, pp. 537-548
-
-
Davies, S.W.1
Turmaine, M.2
Cozens, B.A.3
DiFiglia, M.4
Sharp, A.H.5
Ross, C.A.6
Scherzinger, E.7
Wanker, E.E.8
Mangiarini, L.9
Bates, G.P.10
-
6
-
-
0030752709
-
Aggregation of huntington in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N (1997) Aggregation of Huntington in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277 : 1990-1993
-
(1997)
Science
, vol.277
, pp. 1990-1993
-
-
DiFiglia, M.1
Sapp, E.2
Chase, K.O.3
Davies, S.W.4
Bates, G.P.5
Vonsattel, J.P.6
Aronin, N.7
-
7
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular and neuropathological features
-
Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, DidierJean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, Serdaru M, Penet C, Agid Y, Brice A (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 39 : 490-499
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Dürr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
DidierJean, O.6
Chneiweiss, H.7
Benomar, A.8
Lyon-Caen, O.9
Julien, J.10
Serdaru, M.11
Penet, C.12
Agid, Y.13
Brice, A.14
-
8
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
-
Holmberg M, Duyckaerts C, Dürr A, Cancel G, Gourfinkel-An I, Damier P, Faucheux B, Trottier Y, Hirsch EC, Agid Y, Brice A (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
Duyckaerts, C.2
Dürr, 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
Brice, A.11
-
9
-
-
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 (1998) Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 18 : 111-117
-
(1998)
Nat Genet
, vol.18
, pp. 111-117
-
-
Igarashi, S.1
Koide, R.2
Shimohata, T.3
-
10
-
-
0030669689
-
Polyglutamines, nuclear inclusions and neurodegeneration
-
Lunkes A, Mandel JL (1997) Polyglutamines, nuclear inclusions and neurodegeneration. Nat Med 3 : 1201-1202
-
(1997)
Nat Med
, vol.3
, pp. 1201-1202
-
-
Lunkes, A.1
Mandel, J.L.2
-
11
-
-
0030975726
-
Mosaicism of the CAG repeat in CNS tissue in relation to age at death in sponcerebellar ataxia type 1 and Machado-Joseph disease patients
-
Maciel P, Lopez-Cendes I, Kish S, Sequeiros J, Rouleau G (1997) Mosaicism of the CAG repeat in CNS tissue in relation to age at death in sponcerebellar ataxia type 1 and Machado-Joseph disease patients. Am J Hum Genet 60 : 993-996
-
(1997)
Am J Hum Genet
, vol.60
, pp. 993-996
-
-
Maciel, P.1
Lopez-Cendes, I.2
Kish, S.3
Sequeiros, J.4
Rouleau, G.5
-
12
-
-
0030716768
-
The cerebellar leucine-rich acidic nuclear protein interact with ataxin-1
-
Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY (1997) The cerebellar leucine-rich acidic nuclear protein interact with ataxin-1. Nature 389 : 974-978
-
(1997)
Nature
, vol.389
, pp. 974-978
-
-
Matilla, A.1
Koshy, B.T.2
Cummings, C.J.3
Isobe, T.4
Orr, H.T.5
Zoghbi, H.Y.6
-
13
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19 : 334-344
-
(1997)
Neuron
, vol.19
, pp. 334-344
-
-
Paulson, H.L.1
Perez, M.K.2
Trottier, Y.3
Trojanowski, J.Q.4
Subramony, S.H.5
Das, S.S.6
Vig, P.7
Mandel, J.L.8
Fischbeck, K.H.9
Pittman, R.N.10
-
14
-
-
0030847065
-
The neuropathology of CAG repeat diseases: Review and update of genetic and molecular features
-
Robitaille Y, Lopes-Cendes I, Becher M, Rouleau G, Clark AW (1997) The neuropathology of CAG repeat diseases: review and update of genetic and molecular features. Brain Pathol 7 : 901-906
-
(1997)
Brain Pathol
, vol.7
, pp. 901-906
-
-
Robitaille, Y.1
Lopes-Cendes, I.2
Becher, M.3
Rouleau, G.4
Clark, A.W.5
-
15
-
-
18544400323
-
Huntington-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
-
Scherzinger E, Lurz R, Turmaine M, Mangiarini L, Hollenbach B, Hasenbank R, Bates GP, Davies SW, Lehrach H, Wanker EE (1997) Huntington-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90 : 549-558
-
(1997)
Cell
, vol.90
, pp. 549-558
-
-
Scherzinger, E.1
Lurz, R.2
Turmaine, M.3
Mangiarini, L.4
Hollenbach, B.5
Hasenbank, R.6
Bates, G.P.7
Davies, S.W.8
Lehrach, H.9
Wanker, E.E.10
-
16
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 10 : 94-98
-
(1995)
Nat Genet
, vol.10
, pp. 94-98
-
-
Servadio, A.1
Koshy, B.2
Armstrong, D.3
Antalffy, B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
17
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
-
Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 389 : 971-974
-
(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
-
18
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in huntington's disease and four dominant cerebellar ataxias
-
Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel JL (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
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
Cancel, G.6
Saudou, F.7
Weber, C.8
David, G.9
Tora, L.10
Agid, Y.11
Brice, A.12
Mandel, J.L.13
-
19
-
-
1842293985
-
CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles
-
Zuhlke C, Hellenbroich Y, Schaaff F, Gehlken U, Wessel K, Schubert T, Cervos-Navarro J, Pickartz H, Schwinger E (1997) CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles. Hum Genet 100: 339-344
-
(1997)
Hum Genet
, vol.100
, pp. 339-344
-
-
Zuhlke, C.1
Hellenbroich, Y.2
Schaaff, F.3
Gehlken, U.4
Wessel, K.5
Schubert, T.6
Cervos-Navarro, J.7
Pickartz, H.8
Schwinger, E.9
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