-
2
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-26
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
-
3
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
4
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285-91
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
5
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-28
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
6
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1 A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1 A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
7
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 1999;23:391-92
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
-
8
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-84
-
(1999)
Nat Genet
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
-
9
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000;26:191-94
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
-
10
-
-
0035115573
-
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
-
Fujigasaki H, Verma IC, Camuzat A, et al. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family. Ann Neurol 2001;49:117-21
-
(2001)
Ann Neurol
, vol.49
, pp. 117-121
-
-
Fujigasaki, H.1
Verma, I.C.2
Camuzat, A.3
-
11
-
-
0035198979
-
Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12
-
Srivastava AK, Choudhry S, Gopinath MS, et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 2001;50:796-800
-
(2001)
Ann Neurol
, vol.50
, pp. 796-800
-
-
Srivastava, A.K.1
Choudhry, S.2
Gopinath, M.S.3
-
12
-
-
0034007097
-
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia
-
Worth PF, Houlden H, Giunti P, et al. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet 2000;24:214-15
-
(2000)
Nat Genet
, vol.24
, pp. 214-215
-
-
Worth, P.F.1
Houlden, H.2
Giunti, P.3
-
13
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schols L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
-
14
-
-
0043127451
-
Dominant ataxias and Friedreich ataxia: An update
-
Albin RL. Dominant ataxias and Friedreich ataxia: An update. Curr Opin Neurol 2003;16:507-14
-
(2003)
Curr Opin Neurol
, vol.16
, pp. 507-514
-
-
Albin, R.L.1
-
15
-
-
0033910529
-
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
-
Herman-Bert A, Stevanin G, Netter JC, et al. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet 2000;67:229-35
-
(2000)
Am J Hum Genet
, vol.67
, pp. 229-235
-
-
Herman-Bert, A.1
Stevanin, G.2
Netter, J.C.3
-
16
-
-
0033866835
-
A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
-
Yamashita I, Sasaki H, Yabe I, et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000;48:156-63
-
(2000)
Ann Neurol
, vol.48
, pp. 156-163
-
-
Yamashita, I.1
Sasaki, H.2
Yabe, I.3
-
17
-
-
0036340697
-
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter
-
Brkanac Z, Bylenok L, Fernandez M, et al. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 2002;59:1291-95
-
(2002)
Arch Neurol
, vol.59
, pp. 1291-1295
-
-
Brkanac, Z.1
Bylenok, L.2
Fernandez, M.3
-
18
-
-
0346734156
-
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
-
van de Warrenburg BP, Verbeek DS, Piersma SJ, et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003;61:1760-65
-
(2003)
Neurology
, vol.61
, pp. 1760-1765
-
-
Van De Warrenburg, B.P.1
Verbeek, D.S.2
Piersma, S.J.3
-
19
-
-
0037385006
-
Missense mutations in the regulatory domain of pkc gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of pkc gamma: A new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-49
-
(2003)
Am J Hum Genet
, vol.72
, pp. 839-849
-
-
Chen, D.H.1
Brkanac, Z.2
Verlinde, C.L.3
-
20
-
-
0346754906
-
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
-
Yabe I, Sasaki H, Chen DH, et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003;60:1749-51
-
(2003)
Arch Neurol
, vol.60
, pp. 1749-1751
-
-
Yabe, I.1
Sasaki, H.2
Chen, D.H.3
-
21
-
-
4043178555
-
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
-
Stevanin G, Hahn V, Lohmann E, et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004;61:1242-48
-
(2004)
Arch Neurol
, vol.61
, pp. 1242-1248
-
-
Stevanin, G.1
Hahn, V.2
Lohmann, E.3
-
22
-
-
0038048459
-
Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: Exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
-
Knight MA, Kennerson ML, Anney RJ, et al. Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: Exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis 2003;13:147-57
-
(2003)
Neurobiol Dis
, vol.13
, pp. 147-157
-
-
Knight, M.A.1
Kennerson, M.L.2
Anney, R.J.3
-
23
-
-
10744232588
-
Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus
-
Hara K, Fukushima T, Suzuki T, et al. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Neurology 2004;62:648-51
-
(2004)
Neurology
, vol.62
, pp. 648-651
-
-
Hara, K.1
Fukushima, T.2
Suzuki, T.3
-
24
-
-
0035838438
-
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
-
Miyoshi Y, Yamada T, Tanimura M, et al. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 2001;57:96-100
-
(2001)
Neurology
, vol.57
, pp. 96-100
-
-
Miyoshi, Y.1
Yamada, T.2
Tanimura, M.3
-
25
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001;10:1441-48
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
-
26
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003;54:367-75
-
(2003)
Ann Neurol
, vol.54
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
-
27
-
-
0032885515
-
A neurologic disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
-
Koide R, Kobayashi S, Shimohata T, et al. A neurologic disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999;8:2047-53
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
-
28
-
-
0034783914
-
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
-
Fujigasaki H, Martin JJ, De Deyn PP, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 2001;124:1939-47
-
(2001)
Brain
, vol.124
, pp. 1939-1947
-
-
Fujigasaki, H.1
Martin, J.J.2
De Deyn, P.P.3
-
29
-
-
0037321835
-
Phenotypical variability of expanded alleles in the TATA-binding protein gene: Reduced penetrance in SCA17?
-
Zuhlke C, Gehlken U, Hellenbroich Y, et al. Phenotypical variability of expanded alleles in the TATA-binding protein gene: Reduced penetrance in SCA17? J Neurol 2003;250:161-63
-
(2003)
J Neurol
, vol.250
, pp. 161-163
-
-
Zuhlke, C.1
Gehlken, U.2
Hellenbroich, Y.3
-
30
-
-
10744221735
-
Intergenerational instability and marked anticipation in SCA-17
-
Maltecca F, Filla A, Castaldo I, et al. Intergenerational instability and marked anticipation in SCA-17. Neurology 2003;61:1441-43
-
(2003)
Neurology
, vol.61
, pp. 1441-1443
-
-
Maltecca, F.1
Filla, A.2
Castaldo, I.3
-
31
-
-
0842282678
-
SCA17 homozygote showing Huntington's disease-like phenotype
-
Toyoshima Y, Yamada M, Onodera O, et al. SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol 2004;55:281-86
-
(2004)
Ann Neurol
, vol.55
, pp. 281-286
-
-
Toyoshima, Y.1
Yamada, M.2
Onodera, O.3
-
32
-
-
0037042098
-
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32
-
Brkanac Z, Fernandez M, Matsushita M, et al. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet 2002;114:450-57
-
(2002)
Am J Med Genet
, vol.114
, pp. 450-457
-
-
Brkanac, Z.1
Fernandez, M.2
Matsushita, M.3
-
33
-
-
0036820509
-
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
-
Verbeek DS, Schelhaas JH, Ippel EF, et al. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet 2002;111:388-93
-
(2002)
Hum Genet
, vol.111
, pp. 388-393
-
-
Verbeek, D.S.1
Schelhaas, J.H.2
Ippel, E.F.3
-
34
-
-
0035085368
-
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia
-
Schelhaas HJ, Ippel PF, Hageman G, et al. Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. J Neurol 2001;248:113-20
-
(2001)
J Neurol
, vol.248
, pp. 113-120
-
-
Schelhaas, H.J.1
Ippel, P.F.2
Hageman, G.3
-
35
-
-
0037677603
-
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
-
Chung MY, Lu YC, Cheng NC, et al. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain 2003;126:1293-99
-
(2003)
Brain
, vol.126
, pp. 1293-1299
-
-
Chung, M.Y.1
Lu, Y.C.2
Cheng, N.C.3
-
36
-
-
1542674538
-
SCA19 and SCA22: Evidence for one locus with a worldwide distribution
-
Schelhaas HJ, Verbeek DS, van de Warrenburg BP, et al. SCA19 and SCA22: Evidence for one locus with a worldwide distribution. Brain 2004;127:E6
-
(2004)
Brain
, vol.127
-
-
Schelhaas, H.J.1
Verbeek, D.S.2
Van De Warrenburg, B.P.3
-
37
-
-
2442527917
-
Dominantly inherited ataxia and dysphonia with dentate calcification: Spinocerebellar ataxia type 20
-
Knight MA, McKinlay Gardner RJ, et al. Dominantly inherited ataxia and dysphonia with dentate calcification: Spinocerebellar ataxia type 20. Brain;127:1172-81
-
Brain
, vol.127
, pp. 1172-1181
-
-
Knight, M.A.1
McKinlay Gardner, R.J.2
-
38
-
-
0036830123
-
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
-
Vuillaume I, Devos D, Schraen-Maschke S, et al. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann Neurol 2002;52:666-70
-
(2002)
Ann Neurol
, vol.52
, pp. 666-670
-
-
Vuillaume, I.1
Devos, D.2
Schraen-Maschke, S.3
-
39
-
-
8144221193
-
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
-
Verbeek DS, van de Warrenburg BP, Wesseling P, et al. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 2004;127:2551-57
-
(2004)
Brain
, vol.127
, pp. 2551-2557
-
-
Verbeek, D.S.1
Van De Warrenburg, B.P.2
Wesseling, P.3
-
40
-
-
0036237387
-
A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus
-
Swartz BE, Burmeister M, Somers JT, et al. A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus. Ann N Y Acad Sci 2002;956:441-44
-
(2002)
Ann N Y Acad Sci
, vol.956
, pp. 441-444
-
-
Swartz, B.E.1
Burmeister, M.2
Somers, J.T.3
-
41
-
-
9144256120
-
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
-
Stevanin G, Bouslam N, Thobois S, et al. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol 2004;55:97-104
-
(2004)
Ann Neurol
, vol.55
, pp. 97-104
-
-
Stevanin, G.1
Bouslam, N.2
Thobois, S.3
-
42
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia
-
van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia. Am J Hum Genet 2003;72:191-99
-
(2003)
Am J Hum Genet
, vol.72
, pp. 191-199
-
-
Van Swieten, J.C.1
Brusse, E.2
De Graaf, B.M.3
-
43
-
-
0025195344
-
Friedreich's ataxia: A descriptive epidemiological study in an Italian population
-
Leone M, Brignolio F, Rosso MG, et al. Friedreich's ataxia: A descriptive epidemiological study in an Italian population. Clin Genet 1990;38:161-69
-
(1990)
Clin Genet
, vol.38
, pp. 161-169
-
-
Leone, M.1
Brignolio, F.2
Rosso, M.G.3
-
44
-
-
0030739437
-
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and permutations
-
Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and permutations. Proc Natl Acad Sci USA 1997;94:7452-57
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7452-7457
-
-
Cossee, M.1
Schmitt, M.2
Campuzano, V.3
-
45
-
-
0041510563
-
Friedreich's ataxia: Treatment within reach
-
Durr A. Friedreich's ataxia: Treatment within reach. Lancet Neurol 2002;1:370-74
-
(2002)
Lancet Neurol
, vol.1
, pp. 370-374
-
-
Durr, A.1
-
46
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-27
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
47
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-75
-
(1996)
N Engl J Med
, vol.335
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.3
-
48
-
-
0031009267
-
Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
-
Epplen C, Epplen JT, Frank G, et al. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997;99:834-36
-
(1997)
Hum Genet
, vol.99
, pp. 834-836
-
-
Epplen, C.1
Epplen, J.T.2
Frank, G.3
-
49
-
-
0344820730
-
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
-
Cossee M, Durr A, Schmitt M, et al. Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes. Ann Neurol 1999;45:200-206
-
(1999)
Ann Neurol
, vol.45
, pp. 200-206
-
-
Cossee, M.1
Durr, A.2
Schmitt, M.3
-
50
-
-
0031883441
-
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
-
Hanna MG, Davis MB, Sweeney MG, et al. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Mov Disord 1998;13:339-40
-
(1998)
Mov Disord
, vol.13
, pp. 339-340
-
-
Hanna, M.G.1
Davis, M.B.2
Sweeney, M.G.3
-
51
-
-
0033027550
-
Marked variation in the cardiomyopathy associated with Friedreich's ataxia
-
Dutka DP, Donnelly JE, Nihoyannopoulos P, et al. Marked variation in the cardiomyopathy associated with Friedreich's ataxia. Heart 1999;81:141-47
-
(1999)
Heart
, vol.81
, pp. 141-147
-
-
Dutka, D.P.1
Donnelly, J.E.2
Nihoyannopoulos, P.3
-
52
-
-
18044403702
-
Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity
-
Christodoulou K, Deymeer F, Serdaroglu P, et al. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity. Neurogenetics 2001;3:127-32
-
(2001)
Neurogenetics
, vol.3
, pp. 127-132
-
-
Christodoulou, K.1
Deymeer, F.2
Serdaroglu, P.3
-
53
-
-
0032145061
-
Electrophysiology and nerve biopsy: Comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency
-
Zouari M, Feki M, Ben Hamida C, et al. Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromuscul Disord 1998;8:416-25
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 416-425
-
-
Zouari, M.1
Feki, M.2
Ben Hamida, C.3
-
54
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
-
Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet 1995;9:141-45
-
(1995)
Nat Genet
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
-
55
-
-
0027514838
-
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
-
Ben Hamida C, Doerflinger N, Belal S, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 1993;5:195-200
-
(1993)
Nat Genet
, vol.5
, pp. 195-200
-
-
Ben Hamida, C.1
Doerflinger, N.2
Belal, S.3
-
56
-
-
0242361309
-
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
-
Bomar JM, Benke PJ, Slattery EL, et al. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet 2003;35:264-69
-
(2003)
Nat Genet
, vol.35
, pp. 264-269
-
-
Bomar, J.M.1
Benke, P.J.2
Slattery, E.L.3
-
57
-
-
0035726073
-
Effect of vitamin e supplementation in patients with ataxia with vitamin E deficiency
-
Gabsi S, Gouider-Khouja N, Belal S, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 2001;8:477-81
-
(2001)
Eur J Neurol
, vol.8
, pp. 477-481
-
-
Gabsi, S.1
Gouider-Khouja, N.2
Belal, S.3
-
58
-
-
0027428820
-
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
-
Sharp D, Blinderman L, Combs KA, et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 1993;365:65-69
-
(1993)
Nature
, vol.365
, pp. 65-69
-
-
Sharp, D.1
Blinderman, L.2
Combs, K.A.3
-
59
-
-
0021926630
-
Hereditary sideroblastic anemia and ataxia: An X linked recessive disorder
-
Pagon RA, Bird TD, Detter JC, et al. Hereditary sideroblastic anemia and ataxia: an X linked recessive disorder. J Med Genet 1985;22:267-73
-
(1985)
J Med Genet
, vol.22
, pp. 267-273
-
-
Pagon, R.A.1
Bird, T.D.2
Detter, J.C.3
-
60
-
-
0032920837
-
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
-
Allikmets R, Raskind WH, Hutchinson A, et al. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 1999;8:743-49
-
(1999)
Hum Mol Genet
, vol.8
, pp. 743-749
-
-
Allikmets, R.1
Raskind, W.H.2
Hutchinson, A.3
-
61
-
-
0035672913
-
X-linked cerebellar ataxia and sideroblastic anemia associated with a missense mutation in the ABC7 gene predicting V411L
-
Maguire A, Hellier K, Hammans S, et al. X-linked cerebellar ataxia and sideroblastic anemia associated with a missense mutation in the ABC7 gene predicting V411L. Br J Haematol 2001;115:910-17
-
(2001)
Br J Haematol
, vol.115
, pp. 910-917
-
-
Maguire, A.1
Hellier, K.2
Hammans, S.3
-
62
-
-
0028089305
-
Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease
-
Koskinen T, Santavuori P, Sainio K, et al. Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease. J Neurol Sci 1994;121:50-56
-
(1994)
J Neurol Sci
, vol.121
, pp. 50-56
-
-
Koskinen, T.1
Santavuori, P.2
Sainio, K.3
-
63
-
-
0029812169
-
Tracing an ancestral mutation: Genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus
-
Varilo T, Nikali K, Suomalainen A, et al. Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. Genome Res 1996;6:870-75
-
(1996)
Genome Res
, vol.6
, pp. 870-875
-
-
Varilo, T.1
Nikali, K.2
Suomalainen, A.3
-
64
-
-
0032569825
-
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathologic features
-
Lonnqvist T, Paetau A, Nikali K, et al. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathologic features. J Neurol Sci 1998;161:57-65
-
(1998)
J Neurol Sci
, vol.161
, pp. 57-65
-
-
Lonnqvist, T.1
Paetau, A.2
Nikali, K.3
-
65
-
-
18644386254
-
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
-
Takashima H, Boerkoel CF, John J, et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 2002;32:267-72
-
(2002)
Nat Genet
, vol.32
, pp. 267-272
-
-
Takashima, H.1
Boerkoel, C.F.2
John, J.3
-
66
-
-
34248143036
-
Early-onset cerebellar ataxia
-
Klockgether T, ed. New York: Marcel Dekker
-
Filla A, De Michele G. Early-onset cerebellar ataxia. In: Klockgether T, ed. Handbook of Ataxia Disorders. New York: Marcel Dekker, 2000
-
(2000)
Handbook of Ataxia Disorders
-
-
Filla, A.1
De Michele, G.2
-
67
-
-
0019521898
-
Early onset cerebellar ataxia with retained tendon reflexes: A clinical and genetic study of a disorder distinct from Friedreich's ataxia
-
Harding AE. Early onset cerebellar ataxia with retained tendon reflexes: A clinical and genetic study of a disorder distinct from Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1981;44:503-8
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 503-508
-
-
Harding, A.E.1
-
68
-
-
0025775734
-
Early onset cerebellar ataxia with retained tendon reflexes: Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia
-
Klockgether T, Petersen D, Grodd W, et al. Early onset cerebellar ataxia with retained tendon reflexes: Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Brain 1991;114:1559-73
-
(1991)
Brain
, vol.114
, pp. 1559-1573
-
-
Klockgether, T.1
Petersen, D.2
Grodd, W.3
-
69
-
-
6844236985
-
The natural history of degenerative ataxia: A retrospective study in 466 patients
-
Klockgether T, Ludtke R, Kramer B, et al. The natural history of degenerative ataxia: A retrospective study in 466 patients. Brain 1998;121:589-600
-
(1998)
Brain
, vol.121
, pp. 589-600
-
-
Klockgether, T.1
Ludtke, R.2
Kramer, B.3
-
70
-
-
0036176516
-
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13
-
Meijer IA, Hand CK, Grewal KK, et al. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am J Hum Genet 2002;70:763-69
-
(2002)
Am J Hum Genet
, vol.70
, pp. 763-769
-
-
Meijer, I.A.1
Hand, C.K.2
Grewal, K.K.3
-
71
-
-
0017875301
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
-
Bouchard JP, Barbeau A, Bouchard R, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978;5:61-69
-
(1978)
Can J Neurol Sci
, vol.5
, pp. 61-69
-
-
Bouchard, J.P.1
Barbeau, A.2
Bouchard, R.3
-
72
-
-
0033361944
-
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11
-
Richter A, Rioux JD, Bouchard JP, et al. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet 1999;64:768-75
-
(1999)
Am J Hum Genet
, vol.64
, pp. 768-775
-
-
Richter, A.1
Rioux, J.D.2
Bouchard, J.P.3
-
73
-
-
9144226226
-
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
-
Grieco GS, Malandrini A, Comanducci G, et al. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 2004;62:103-6
-
(2004)
Neurology
, vol.62
, pp. 103-106
-
-
Grieco, G.S.1
Malandrini, A.2
Comanducci, G.3
-
74
-
-
0347236900
-
Identification of a SACS gene missense mutation in ARSACS
-
Ogawa T, Takiyama Y, Sakoe K, et al. Identification of a SACS gene missense mutation in ARSACS. Neurology 2004;62:107-9
-
(2004)
Neurology
, vol.62
, pp. 107-109
-
-
Ogawa, T.1
Takiyama, Y.2
Sakoe, K.3
-
75
-
-
9144241657
-
A novel mutation in SACS gene in a family from southern Italy
-
Criscuolo C, Banfi S, Orio M, et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 2004;62:100-102
-
(2004)
Neurology
, vol.62
, pp. 100-102
-
-
Criscuolo, C.1
Banfi, S.2
Orio, M.3
-
76
-
-
0038037554
-
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia
-
Euch-Fayache G, Lalani I, Amouri R, et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 2003;60:982-88
-
(2003)
Arch Neurol
, vol.60
, pp. 982-988
-
-
Euch-Fayache, G.1
Lalani, I.2
Amouri, R.3
-
77
-
-
0034880657
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families
-
Gucuyener K, Ozgul K, Paternotte C, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families. Neuropediatrics 2001;32:142-46
-
(2001)
Neuropediatrics
, vol.32
, pp. 142-146
-
-
Gucuyener, K.1
Ozgul, K.2
Paternotte, C.3
-
78
-
-
0034636165
-
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
-
Mrissa N, Belal S, Hamida CB, et al. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 2000;54:1408-14
-
(2000)
Neurology
, vol.54
, pp. 1408-1414
-
-
Mrissa, N.1
Belal, S.2
Hamida, C.B.3
-
79
-
-
0022992181
-
The incidence and gene frequency of ataxia-telangiectasia in the United States
-
Swift M, Morrell D, Cromartie E, et al. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 1986;39:573-83
-
(1986)
Am J Hum Genet
, vol.39
, pp. 573-583
-
-
Swift, M.1
Morrell, D.2
Cromartie, E.3
-
80
-
-
0028587229
-
Ataxia-telangiectasia in Italy: Genetic analysis
-
Chessa L, Lisa A, Fiorani O, et al. Ataxia-telangiectasia in Italy: genetic analysis. Int J Radiat Biol 1994;66(suppl):31-33
-
(1994)
Int J Radiat Biol
, vol.66
, Issue.SUPPL.
, pp. 31-33
-
-
Chessa, L.1
Lisa, A.2
Fiorani, O.3
-
81
-
-
0026612460
-
Ataxia telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals
-
Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals. Q J Med 1992;82:169-79
-
(1992)
Q J Med
, vol.82
, pp. 169-179
-
-
Woods, C.G.1
Taylor, A.M.2
-
82
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
83
-
-
0031945722
-
Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: A clinicopathologic observation in three siblings
-
Larnaout A, Belal S, Ben Hamida C, et al. Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: A clinicopathologic observation in three siblings. J Neurol 1998;245:231-35
-
(1998)
J Neurol
, vol.245
, pp. 231-235
-
-
Larnaout, A.1
Belal, S.2
Ben Hamida, C.3
-
84
-
-
0017149398
-
Neuropathologic changes in ataxia-telangiectasia
-
De Leon GA, Grover WD, Huff DS. Neuropathologic changes in ataxia-telangiectasia. Neurology 1976;26:947-51
-
(1976)
Neurology
, vol.26
, pp. 947-951
-
-
De Leon, G.A.1
Grover, W.D.2
Huff, D.S.3
-
86
-
-
0035000131
-
Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: Report of an autopsy case and literature review
-
Kamiya M, Yamanouchi H, Yoshida T, et al. Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: Report of an autopsy case and literature review. Pathol Int 2001;51:271-76
-
(2001)
Pathol Int
, vol.51
, pp. 271-276
-
-
Kamiya, M.1
Yamanouchi, H.2
Yoshida, T.3
-
87
-
-
0033544724
-
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
-
Stewart GS, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999;99:577-87
-
(1999)
Cell
, vol.99
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
Stankovic, T.3
-
88
-
-
0023684502
-
Ataxia-ocular motor apraxia: A syndrome mimicking ataxia-telangiectasia
-
Aicardi J, Barbosa C, Andermann E, et al. Ataxia-ocular motor apraxia: A syndrome mimicking ataxia-telangiectasia. Ann Neurol 1988;24:497-502
-
(1988)
Ann Neurol
, vol.24
, pp. 497-502
-
-
Aicardi, J.1
Barbosa, C.2
Andermann, E.3
-
89
-
-
0035109757
-
Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients
-
Barbot C, Coutinho P, Chorao R, et al. Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients. Arch Neurol 2001;58:201-5
-
(2001)
Arch Neurol
, vol.58
, pp. 201-205
-
-
Barbot, C.1
Coutinho, P.2
Chorao, R.3
-
90
-
-
0035125621
-
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
-
Moreira MC, Barbot C, Tachi N, et al. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 2001;68:501-8
-
(2001)
Am J Hum Genet
, vol.68
, pp. 501-508
-
-
Moreira, M.C.1
Barbot, C.2
Tachi, N.3
-
91
-
-
0034790947
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
-
Date H, Onodera O, Tanaka H, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001;29:184-88
-
(2001)
Nat Genet
, vol.29
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
Tanaka, H.3
-
92
-
-
0033754489
-
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
-
Nemeth AH, Bochukova E, Dunne E, et al. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000;67:1320-26
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1320-1326
-
-
Nemeth, A.H.1
Bochukova, E.2
Dunne, E.3
-
93
-
-
15144353774
-
Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein
-
Watanabe M, Sugai Y, Concannon P, et al. Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. Ann Neurol 1998;44:265-69
-
(1998)
Ann Neurol
, vol.44
, pp. 265-269
-
-
Watanabe, M.1
Sugai, Y.2
Concannon, P.3
-
94
-
-
10744230604
-
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
-
Moreira MC, Klur S, Watanabe M, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004;36:225-27
-
(2004)
Nat Genet
, vol.36
, pp. 225-227
-
-
Moreira, M.C.1
Klur, S.2
Watanabe, M.3
-
95
-
-
0025167681
-
Progressive myoclonic ataxia (the Ramsay Hunt syndrome)
-
Marsden CD, Harding AE, Obeso JA, et al. Progressive myoclonic ataxia (the Ramsay Hunt syndrome). Arch Neurol 1990;47:1121-25
-
(1990)
Arch Neurol
, vol.47
, pp. 1121-1125
-
-
Marsden, C.D.1
Harding, A.E.2
Obeso, J.A.3
-
96
-
-
0025771331
-
Sialidosis type I: First report in the Indian population. A clinical, biochemical and electrophysiological study
-
Bhigjee AI, Seebaran AR, Petersen EM, et al. Sialidosis type I: First report in the Indian population. A clinical, biochemical and electrophysiological study. Clin Neurol Neurosurg 1991;93:115-18
-
(1991)
Clin Neurol Neurosurg
, vol.93
, pp. 115-118
-
-
Bhigjee, A.I.1
Seebaran, A.R.2
Petersen, E.M.3
-
97
-
-
0026454572
-
Progressive myoclonic ataxia without ragged red fibers: Unverricht-Lundborg disease versus Ramsay Hunt syndrome
-
Shakir RA, Khan RA, al Zuhair AG. Progressive myoclonic ataxia without ragged red fibers: Unverricht-Lundborg disease versus Ramsay Hunt syndrome. Acta Neurol Scand 1992;86:470-73
-
(1992)
Acta Neurol Scand
, vol.86
, pp. 470-473
-
-
Shakir, R.A.1
Khan, R.A.2
Al Zuhair, A.G.3
-
98
-
-
0027788168
-
Merrf family with 8344 mutation in tRNA (lys): Evidence of a mitochondrial vasculopathy in muscle biopsies
-
Coquet M, Degoul F, Vital A, et al. Merrf family with 8344 mutation in tRNA (lys): Evidence of a mitochondrial vasculopathy in muscle biopsies. Neuromuscul Disord 1993;3:593-97
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 593-597
-
-
Coquet, M.1
Degoul, F.2
Vital, A.3
-
99
-
-
0030662495
-
CSF antigliadin antibodies and the Ramsay Hunt syndrome
-
Chinnery PF, Reading PJ, Milne D, et al. CSF antigliadin antibodies and the Ramsay Hunt syndrome. Neurology 1997;49:1131-33
-
(1997)
Neurology
, vol.49
, pp. 1131-1133
-
-
Chinnery, P.F.1
Reading, P.J.2
Milne, D.3
-
101
-
-
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
-
102
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement IA, Skinner PJ, Kaytor MD, et al. Ataxin-1 nuclear localization and aggregation: Role in 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
-
103
-
-
0032769095
-
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
-
Ishikawa K, Fujigasaki H, Saegusa H, et al. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet 1999;8:1185-93
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1185-1193
-
-
Ishikawa, K.1
Fujigasaki, H.2
Saegusa, H.3
-
104
-
-
0037408279
-
Transcriptional abnormalities in Huntington disease
-
Sugars KL, Rubinsztein DC. Transcriptional abnormalities in Huntington disease. Trends Genet 2003:19:233-38
-
(2003)
Trends Genet
, vol.19
, pp. 233-238
-
-
Sugars, K.L.1
Rubinsztein, D.C.2
-
105
-
-
0347287040
-
Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization
-
Chen S, Peng GH, Wang X, et al. Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization. Hum Mol Genet 2004;13:53-67
-
(2004)
Hum Mol Genet
, vol.13
, pp. 53-67
-
-
Chen, S.1
Peng, G.H.2
Wang, X.3
-
106
-
-
0034285017
-
CREB-binding protein sequestration by expanded polyglutamine
-
McCampbell A, Taylor JP, Taye AA, et al. CREB-binding protein sequestration by expanded polyglutamine. Hum Mol Genet 2000;9:2197-202
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2197-2202
-
-
McCampbell, A.1
Taylor, J.P.2
Taye, A.A.3
-
107
-
-
0033818112
-
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription
-
Shimohata T, Nakajima T, Yamada M, et al. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet 2000;26:29-36
-
(2000)
Nat Genet
, vol.26
, pp. 29-36
-
-
Shimohata, T.1
Nakajima, T.2
Yamada, M.3
-
108
-
-
0346220220
-
General transcriptional repression by polyglutamine disease proteins is not directly linked to the presence of inclusion bodies
-
Hoshino M, Tagawa K, Okuda T, et al. General transcriptional repression by polyglutamine disease proteins is not directly linked to the presence of inclusion bodies. Biochem Biophys Res Commun 2004;313:110-16
-
(2004)
Biochem Biophys Res Commun
, vol.313
, pp. 110-116
-
-
Hoshino, M.1
Tagawa, K.2
Okuda, T.3
-
109
-
-
1642447764
-
Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors
-
Tsai CC, Kao HY, Mitzutani A, et al. Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors. Proc Natl Acad Sci USA 2004;101:4047-52
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 4047-4052
-
-
Tsai, C.C.1
Kao, H.Y.2
Mitzutani, A.3
-
110
-
-
3042771651
-
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes
-
Helmlinger D, Hardy S, Sasorith S, et al. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet 2004;13:1257-65
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1257-1265
-
-
Helmlinger, D.1
Hardy, S.2
Sasorith, S.3
-
111
-
-
0037426430
-
Cerebellar ataxia and coenzyme Q10 deficiency
-
Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003;60:1206-8
-
(2003)
Neurology
, vol.60
, pp. 1206-1208
-
-
Lamperti, C.1
Naini, A.2
Hirano, M.3
-
112
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-80
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
-
113
-
-
0346752172
-
Reduction in frataxin causes progressive accumulation of mitochondrial damage
-
Karthikeyan G, Santos JH, Graziewicz MA, et al. Reduction in frataxin causes progressive accumulation of mitochondrial damage. Hum Mol Genet 2003;12:3331-42
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3331-3342
-
-
Karthikeyan, G.1
Santos, J.H.2
Graziewicz, M.A.3
-
114
-
-
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
-
115
-
-
0035503901
-
Spinocerebellar ataxia type 6: Channelopathy or glutamine repeat disorder?
-
Frontali M. Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder? Brain Res Bull 2001;56:227-31
-
(2001)
Brain Res Bull
, vol.56
, pp. 227-231
-
-
Frontali, M.1
-
116
-
-
0036327065
-
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines
-
Panov AV, Gutekunst CA, Leavitt BR, et al. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci 2002;5:731-36
-
(2002)
Nat Neurosci
, vol.5
, pp. 731-736
-
-
Panov, A.V.1
Gutekunst, C.A.2
Leavitt, B.R.3
-
117
-
-
0035503214
-
SCA12: An unusual mutation leads to an unusual spinocerebellar ataxia
-
Holmes SE, Hearn EO, Ross CA, et al. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res Bull 2001;56:397-403
-
(2001)
Brain Res Bull
, vol.56
, pp. 397-403
-
-
Holmes, S.E.1
Hearn, E.O.2
Ross, C.A.3
-
118
-
-
0035413601
-
Protein kinase C: Structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions
-
Newton AC. Protein kinase C: structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions. Chem Rev 2001;101:2353-64
-
(2001)
Chem Rev
, vol.101
, pp. 2353-2364
-
-
Newton, A.C.1
-
119
-
-
0034858068
-
Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice
-
Skinner PJ, Vierra-Green CA, Clark HB, et al. Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice. Am J Pathol 2001;159:905-13
-
(2001)
Am J Pathol
, vol.159
, pp. 905-913
-
-
Skinner, P.J.1
Vierra-Green, C.A.2
Clark, H.B.3
-
120
-
-
1542267796
-
Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease
-
Lee WC, Yoshihara M, Littleton JT. Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease. Proc Natl Acad Sci USA 2004;101:3224-29
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 3224-3229
-
-
Lee, W.C.1
Yoshihara, M.2
Littleton, J.T.3
-
121
-
-
0035818590
-
Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death
-
Parker JA, Connolly JB, Wellington C, et al. Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death. Proc Natl Acad Sci USA 2001;98:13318-23
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 13318-13323
-
-
Parker, J.A.1
Connolly, J.B.2
Wellington, C.3
-
122
-
-
10744224530
-
Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport
-
Szebenyi G, Morfini GA, Babcock A, et al. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron 2003;40:41-52
-
(2003)
Neuron
, vol.40
, pp. 41-52
-
-
Szebenyi, G.1
Morfini, G.A.2
Babcock, A.3
-
123
-
-
0037365789
-
ATM and related protein kinases: Safeguarding genome integrity
-
Shiloh Y. ATM and related protein kinases: Safeguarding genome integrity. Nat Rev Cancer 2003;3:155-68
-
(2003)
Nat Rev Cancer
, vol.3
, pp. 155-168
-
-
Shiloh, Y.1
-
124
-
-
10744228698
-
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein
-
Sano Y, Date H, Igarashi S, et al. Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol 2004;55:241-49
-
(2004)
Ann Neurol
, vol.55
, pp. 241-249
-
-
Sano, Y.1
Date, H.2
Igarashi, S.3
-
125
-
-
0042808497
-
Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates
-
Donaldson KM, Li W, Ching KA, et al. Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates. Proc Natl Acad Sci USA 2003;100:8892-97
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 8892-8897
-
-
Donaldson, K.M.1
Li, W.2
Ching, K.A.3
-
126
-
-
0037108725
-
Aggregate formation inhibits proteasomal degradation of polyglutamine proteins
-
Verhoef LG, Lindsten K, Masucci MG, et al. Aggregate formation inhibits proteasomal degradation of polyglutamine proteins. Hum Mol Genet 2002;11:2689-700
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2689-2700
-
-
Verhoef, L.G.1
Lindsten, K.2
Masucci, M.G.3
-
127
-
-
0037401277
-
Are Huntington's and polyglutamine-based ataxias proteasome storage diseases?
-
Goellner GM, Rechsteiner M. Are Huntington's and polyglutamine-based ataxias proteasome storage diseases? Int J Biochem Cell Biol 2003;35:562-71
-
(2003)
Int J Biochem Cell Biol
, vol.35
, pp. 562-571
-
-
Goellner, G.M.1
Rechsteiner, M.2
-
128
-
-
0031838352
-
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
-
Cummings CJ, Mancini MA, Antalffy B, et al. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 1998;19:148-54
-
(1998)
Nat Genet
, vol.19
, pp. 148-154
-
-
Cummings, C.J.1
Mancini, M.A.2
Antalffy, B.3
-
129
-
-
0035394668
-
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
-
Cummings CJ, Sun Y, Opal P, et al. Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet 2001;10:1511-18
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1511-1518
-
-
Cummings, C.J.1
Sun, Y.2
Opal, P.3
-
130
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert JC, Berube P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120-25
-
(2000)
Nat Genet
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
Berube, P.2
Mercier, J.3
-
131
-
-
0036173896
-
Interaction of Huntington disease protein with transcriptional activator Sp1
-
Li SH, Cheng AL, Zhou H, et al. Interaction of Huntington disease protein with transcriptional activator Sp1. Mol Cell Biol 2002;22:1277-87
-
(2002)
Mol Cell Biol
, vol.22
, pp. 1277-1287
-
-
Li, S.H.1
Cheng, A.L.2
Zhou, H.3
-
132
-
-
0035919701
-
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease
-
Zuccato C, Ciammola A, Rigamonti D, et al. Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 2001;293:493-98
-
(2001)
Science
, vol.293
, pp. 493-498
-
-
Zuccato, C.1
Ciammola, A.2
Rigamonti, D.3
|