-
1
-
-
0025876335
-
Hereditary ataxias and paraplegias in Cantabria, Spain: An epidemiological and clinical study
-
Polo J.M., et al. Hereditary ataxias and paraplegias in Cantabria, Spain: An epidemiological and clinical study. Brain 114 (1991) 855-866
-
(1991)
Brain
, vol.114
, pp. 855-866
-
-
Polo, J.M.1
-
2
-
-
0028217057
-
Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study
-
Hirayama K., et al. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol Scand 153 Suppl (1994) 1-22
-
(1994)
Acta Neurol Scand
, vol.153
, Issue.SUPPL
, pp. 1-22
-
-
Hirayama, K.1
-
3
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
-
van de Warrenburg B.P., et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 58 (2002) 702-708
-
(2002)
Neurology
, vol.58
, pp. 702-708
-
-
van de Warrenburg, B.P.1
-
4
-
-
4644277325
-
Prevalence of inherited ataxias in the province of Padua, Italy
-
Zortea M., et al. Prevalence of inherited ataxias in the province of Padua, Italy. Neuroepidemiology 23 (2004) 275-280
-
(2004)
Neuroepidemiology
, vol.23
, pp. 275-280
-
-
Zortea, M.1
-
5
-
-
3442875652
-
Population based study of late onset cerebellar ataxia in south east Wales
-
Muzaimi M.B., et al. Population based study of late onset cerebellar ataxia in south east Wales. J Neurol Neurosurg Psychiatry 75 (2004) 1129-1134
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1129-1134
-
-
Muzaimi, M.B.1
-
6
-
-
0024422743
-
Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings
-
Orozco G., et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings. J Neurol Sci 93 (1989) 37-50
-
(1989)
J Neurol Sci
, vol.93
, pp. 37-50
-
-
Orozco, G.1
-
7
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
Sequeiros J., and Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 61 (1993) 139-153
-
(1993)
Adv Neurol
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
8
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr H.T., et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4 (1993) 221-226
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
-
9
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G., et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 14 (1996) 285-291
-
(1996)
Nature Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
-
10
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 14 (1996) 277-284
-
(1996)
Nature Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
-
11
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S.M., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 14 (1996) 269-276
-
(1996)
Nature Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
-
12
-
-
0028143527
-
CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y., et al. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8 (1994) 221-227
-
(1994)
Nature Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
-
13
-
-
0029151475
-
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
-
Cancel G., et al. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet 57 (1995) 809-816
-
(1995)
Am J Hum Genet
, vol.57
, pp. 809-816
-
-
Cancel, G.1
-
14
-
-
0029792130
-
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1
-
Flanigan K., et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59 (1996) 392-399
-
(1996)
Am J Hum Genet
, vol.59
, pp. 392-399
-
-
Flanigan, K.1
-
15
-
-
0037385006
-
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia
-
Chen D.H., et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72 (2003) 839-849
-
(2003)
Am J Hum Genet
, vol.72
, pp. 839-849
-
-
Chen, D.H.1
-
16
-
-
0035838438
-
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
-
Miyoshi Y., et al. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 57 (2001) 96-100
-
(2001)
Neurology
, vol.57
, pp. 96-100
-
-
Miyoshi, Y.1
-
17
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
-
Koide R., et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Hum Mol Genet 8 (1999) 2047-2053
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
-
18
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K., et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10 (2001) 1441-1448
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
-
19
-
-
0037677603
-
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
-
Chung M.Y., et al. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain 126 (2003) 1293-1299
-
(2003)
Brain
, vol.126
, pp. 1293-1299
-
-
Chung, M.Y.1
-
20
-
-
0036820509
-
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
-
Verbeek D.S., et al. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet 111 (2002) 388-393
-
(2002)
Hum Genet
, vol.111
, pp. 388-393
-
-
Verbeek, D.S.1
-
21
-
-
2442527917
-
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20
-
Knight M.A., et al. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127 (2004) 1172-1181
-
(2004)
Brain
, vol.127
, pp. 1172-1181
-
-
Knight, M.A.1
-
22
-
-
0036830123
-
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
-
Vuillaume I., et al. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann Neurol 52 (2002) 666-670
-
(2002)
Ann Neurol
, vol.52
, pp. 666-670
-
-
Vuillaume, I.1
-
23
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
-
van Swieten J.C., et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 72 (2003) 191-199
-
(2003)
Am J Hum Genet
, vol.72
, pp. 191-199
-
-
van Swieten, J.C.1
-
24
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G., et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet 17 (1997) 65-70
-
(1997)
Nature Genet
, vol.17
, pp. 65-70
-
-
David, G.1
-
25
-
-
0031984597
-
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
-
Koob M.D., et al. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genet 18 (1998) 72-75
-
(1998)
Nature Genet
, vol.18
, pp. 72-75
-
-
Koob, M.D.1
-
26
-
-
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. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet 7 (1998) 177-186
-
(1998)
Hum Mol Genet
, vol.7
, pp. 177-186
-
-
Del-Favero, J.1
-
27
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum L.P., et al. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 8 (1994) 280-284
-
(1994)
Nature Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.1
-
28
-
-
0031012399
-
1A-voltage-dependent calcium channel
-
1A-voltage-dependent calcium channel. Nature Genet 15 (1997) 62-69
-
(1997)
Nature Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
-
29
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
-
Holmes S.E., et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23 (1999) 391-392
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
-
30
-
-
0033358555
-
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
-
Worth P.F., et al. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet 65 (1999) 420-426
-
(1999)
Am J Hum Genet
, vol.65
, pp. 420-426
-
-
Worth, P.F.1
-
31
-
-
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 M.A., 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 13 (2003) 147-157
-
(2003)
Neurobiol Dis
, vol.13
, pp. 147-157
-
-
Knight, M.A.1
-
32
-
-
14844297397
-
Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to
-
Yu G.Y., et al. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to. SCA6. Ann Neurol 57 (2005) 349-354
-
(2005)
SCA6. Ann Neurol
, vol.57
, pp. 349-354
-
-
Yu, G.Y.1
-
33
-
-
0033069723
-
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22
-
Zu L., et al. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 64 (1999) 594-599
-
(1999)
Am J Hum Genet
, vol.64
, pp. 594-599
-
-
Zu, L.1
-
34
-
-
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., 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 67 (2000) 229-235
-
(2000)
Am J Hum Genet
, vol.67
, pp. 229-235
-
-
Herman-Bert, A.1
-
35
-
-
0036340697
-
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter
-
Brkanac Z., et al. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 59 (2002) 1291-1295
-
(2002)
Arch Neurol
, vol.59
, pp. 1291-1295
-
-
Brkanac, Z.1
-
36
-
-
22544448383
-
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and rho guanine-nucleotide exchange-factor domains
-
Ishikawa K., et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 77 (2005) 280-296
-
(2005)
Am J Hum Genet
, vol.77
, pp. 280-296
-
-
Ishikawa, K.1
-
37
-
-
8144221193
-
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
-
Verbeek D.S., et al. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 127 (2004) 2551-2557
-
(2004)
Brain
, vol.127
, pp. 2551-2557
-
-
Verbeek, D.S.1
-
38
-
-
1542674538
-
SCA19 and SCA22: evidence for one locus with a worldwide distribution
-
Schelhaas H.J., et al. SCA19 and SCA22: evidence for one locus with a worldwide distribution. Brain 127 (2004) E6
-
(2004)
Brain
, vol.127
-
-
Schelhaas, H.J.1
-
39
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding A.E. Clinical features and classification of inherited ataxias. Adv Neurol 61 (1993) 1-14
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
40
-
-
0033771685
-
Large expansion of the ATTCT pentnucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T., et al. Large expansion of the ATTCT pentnucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26 (2000) 191-194
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
-
41
-
-
0037042098
-
Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32
-
Brkanac Z., et al. Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am J Med Genet 114 (2002) 450-457
-
(2002)
Am J Med Genet
, vol.114
, pp. 450-457
-
-
Brkanac, Z.1
-
42
-
-
9144256120
-
Spinocerebellar ataxia with sensory neuropathy maps to the SCA25 locus on chromosome 2
-
Stevanin G., et al. Spinocerebellar ataxia with sensory neuropathy maps to the SCA25 locus on chromosome 2. Ann Neurol 55 (2004) 97-104
-
(2004)
Ann Neurol
, vol.55
, pp. 97-104
-
-
Stevanin, G.1
-
43
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R., et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6 (1994) 9-13
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
-
44
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S., et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6 (1994) 14-18
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
-
45
-
-
10544253082
-
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias
-
Stevanin G., et al. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum Mol Genet 5 (1996) 1887-1892
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1887-1892
-
-
Stevanin, G.1
-
46
-
-
2442464954
-
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
-
Brusco A., et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 61 (2004) 727-733
-
(2004)
Arch Neurol
, vol.61
, pp. 727-733
-
-
Brusco, A.1
-
47
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia(SCA8)
-
Koob M.D., et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia(SCA8). Nature Genet 21 (1999) 379-384
-
(1999)
Nature Genet
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
-
48
-
-
12744261497
-
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias
-
Dalski A., et al. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet 13 (2005) 118-120
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 118-120
-
-
Dalski, A.1
-
49
-
-
4043178555
-
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
-
Stevanin G., 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 61 (2004) 1242-1248
-
(2004)
Arch Neurol
, vol.61
, pp. 1242-1248
-
-
Stevanin, G.1
-
50
-
-
0346734156
-
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
-
van de Warrenburg B.P., et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 61 (2003) 1760-1765
-
(2003)
Neurology
, vol.61
, pp. 1760-1765
-
-
van de Warrenburg, B.P.1
-
51
-
-
0346754906
-
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
-
Yabe I., et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 60 (2003) 1749-1751
-
(2003)
Arch Neurol
, vol.60
, pp. 1749-1751
-
-
Yabe, I.1
-
52
-
-
13544251405
-
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting
-
Verbeek D.S., et al. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain 128 (2005) 436-442
-
(2005)
Brain
, vol.128
, pp. 436-442
-
-
Verbeek, D.S.1
-
53
-
-
20144388593
-
The clinical and genetic spectrum of spinocerebellar ataxia 14
-
Chen D.H., et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 64 (2005) 1258-1260
-
(2005)
Neurology
, vol.64
, pp. 1258-1260
-
-
Chen, D.H.1
-
54
-
-
27644586218
-
New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14
-
Klebe S., et al. New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14. Ann Neurol 58 (2005) 720-729
-
(2005)
Ann Neurol
, vol.58
, pp. 720-729
-
-
Klebe, S.1
-
55
-
-
23844524453
-
Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregate and cause cell death
-
Seki T., et al. Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregate and cause cell death. J Biol Chem 280 (2005) 29096-29106
-
(2005)
J Biol Chem
, vol.280
, pp. 29096-29106
-
-
Seki, T.1
-
56
-
-
37749044053
-
Spectrin mutations cause spinocerebellar ataxia 5
-
Ikeda Y., et al. Spectrin mutations cause spinocerebellar ataxia 5. Nat Genet 38 (2006) 84-90
-
(2006)
Nat Genet
, vol.38
, pp. 84-90
-
-
Ikeda, Y.1
-
57
-
-
33645421783
-
Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes
-
Waters M.F., et al. Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes. Nat Genet 38 (2006) 447-451
-
(2006)
Nat Genet
, vol.38
, pp. 447-451
-
-
Waters, M.F.1
-
58
-
-
0031647246
-
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
-
Moseley M.L., et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 51 (1998) 1666-1671
-
(1998)
Neurology
, vol.51
, pp. 1666-1671
-
-
Moseley, M.L.1
-
59
-
-
0034008007
-
Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
-
Stevanin G., et al. Are (CTG)n expansions at the SCA8 locus rare polymorphisms?. Nature Genet 24 (2000) 213
-
(2000)
Nature Genet
, vol.24
, pp. 213
-
-
Stevanin, G.1
-
60
-
-
0036220140
-
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus
-
Silveira I., et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 59 (2002) 623-629
-
(2002)
Arch Neurol
, vol.59
, pp. 623-629
-
-
Silveira, I.1
-
61
-
-
2642589007
-
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?
-
Schols L., et al. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?. Ann Neurol 42 (1997) 924-932
-
(1997)
Ann Neurol
, vol.42
, pp. 924-932
-
-
Schols, L.1
-
62
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
Rolfs A., et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54 (2003) 367-375
-
(2003)
Ann Neurol
, vol.54
, pp. 367-375
-
-
Rolfs, A.1
-
63
-
-
4644349432
-
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians
-
Stevanin G., et al. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology 63 (2004) 936
-
(2004)
Neurology
, vol.63
, pp. 936
-
-
Stevanin, G.1
-
64
-
-
2342467323
-
Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan
-
Tsai H.F., et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol Scand 109 (2004) 355-360
-
(2004)
Acta Neurol Scand
, vol.109
, pp. 355-360
-
-
Tsai, H.F.1
-
65
-
-
0037043031
-
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients
-
Maruyama H., et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet 114 (2002) 578-583
-
(2002)
Am J Med Genet
, vol.114
, pp. 578-583
-
-
Maruyama, H.1
-
66
-
-
0037271629
-
Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan
-
Matsumura R., et al. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neurol Scand 107 (2003) 38-41
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 38-41
-
-
Matsumura, R.1
-
67
-
-
19944367927
-
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6
-
Jiang H., et al. Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Chin Med J (Engl) 118 (2005) 837-843
-
(2005)
Chin Med J (Engl)
, vol.118
, pp. 837-843
-
-
Jiang, H.1
-
68
-
-
0034093161
-
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
-
Tang B., et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. J Paediatr Child Health 57 (2000) 540-544
-
(2000)
J Paediatr Child Health
, vol.57
, pp. 540-544
-
-
Tang, B.1
-
69
-
-
0034061759
-
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation
-
Saleem Q., et al. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet 106 (2000) 179-187
-
(2000)
Hum Genet
, vol.106
, pp. 179-187
-
-
Saleem, Q.1
-
70
-
-
0033934458
-
Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India
-
Basu P., et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet 106 (2000) 597-604
-
(2000)
Hum Genet
, vol.106
, pp. 597-604
-
-
Basu, P.1
-
71
-
-
1542616519
-
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India
-
Sinha K.K., et al. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. J Neurol Neurosurg Psychiatry 75 (2004) 448-452
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 448-452
-
-
Sinha, K.K.1
-
72
-
-
0034639294
-
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia
-
Storey E., et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 95 (2000) 351-357
-
(2000)
Am J Med Genet
, vol.95
, pp. 351-357
-
-
Storey, E.1
-
73
-
-
0242607883
-
The hereditary adult-onset ataxias in South Africa
-
Bryer A., et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci 216 (2003) 47-54
-
(2003)
J Neurol Sci
, vol.216
, pp. 47-54
-
-
Bryer, A.1
-
74
-
-
0036193734
-
Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal-an Eastern Indian state
-
Chakravarty A., and Mukherjee S.C. Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal-an Eastern Indian state. Acta Neurol Scand 105 (2002) 202-208
-
(2002)
Acta Neurol Scand
, vol.105
, pp. 202-208
-
-
Chakravarty, A.1
Mukherjee, S.C.2
-
75
-
-
0035198979
-
Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12
-
Srivastava A.K., et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 50 (2001) 796-800
-
(2001)
Ann Neurol
, vol.50
, pp. 796-800
-
-
Srivastava, A.K.1
-
76
-
-
0035981232
-
Molecular analysis of spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7
-
Kim J.Y., et al. Molecular analysis of spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7. Mol Cells 12 (2001) 336-341
-
(2001)
Mol Cells
, vol.12
, pp. 336-341
-
-
Kim, J.Y.1
-
77
-
-
3142727808
-
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations
-
Verbeek D.S., et al. Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations. Eur J Hum Genet 12 (2004) 441-446
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 441-446
-
-
Verbeek, D.S.1
-
78
-
-
0032943086
-
Linkage disequilibrium at the SCA2 locus
-
Didierjean O., et al. Linkage disequilibrium at the SCA2 locus. J Med Genet 36 (1999) 415-417
-
(1999)
J Med Genet
, vol.36
, pp. 415-417
-
-
Didierjean, O.1
-
79
-
-
0344699331
-
Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families
-
Dichgans M., et al. Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families. Neurology 52 (1999) 849-851
-
(1999)
Neurology
, vol.52
, pp. 849-851
-
-
Dichgans, M.1
-
80
-
-
0028787581
-
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation
-
Stevanin G., et al. Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am J Hum Genet 57 (1995) 1247-1250
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1247-1250
-
-
Stevanin, G.1
-
81
-
-
0033401987
-
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG)
-
Stevanin G., et al. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG). Eur J Hum Genet 7 (1999) 889-896
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 889-896
-
-
Stevanin, G.1
-
82
-
-
1542509359
-
A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan
-
Terasawa H., et al. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan. Neurosci Lett 358 (2004) 107-110
-
(2004)
Neurosci Lett
, vol.358
, pp. 107-110
-
-
Terasawa, H.1
-
83
-
-
16844383114
-
Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies
-
Mittal U., et al. Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies. Arch Neurol 62 (2005) 637-640
-
(2005)
Arch Neurol
, vol.62
, pp. 637-640
-
-
Mittal, U.1
-
84
-
-
0242382682
-
Portuguese families with dentatorubro pallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin
-
Martins S., et al. Portuguese families with dentatorubro pallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin. Eur J Hum Genet 11 (2003) 808-811
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 808-811
-
-
Martins, S.1
-
85
-
-
0032802780
-
Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families
-
Filla A., et al. Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families. J Neurol 246 (1999) 467-471
-
(1999)
J Neurol
, vol.246
, pp. 467-471
-
-
Filla, A.1
-
86
-
-
0032977862
-
Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes
-
Pareyson D., et al. Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes. J Neurol 246 (1999) 389-393
-
(1999)
J Neurol
, vol.246
, pp. 389-393
-
-
Pareyson, D.1
-
87
-
-
0035125109
-
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
-
Gaspar C., et al. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am J Hum Genet 68 (2001) 523-528
-
(2001)
Am J Hum Genet
, vol.68
, pp. 523-528
-
-
Gaspar, C.1
-
88
-
-
0031007352
-
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon
-
Stevanin G., et al. Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. Am J Hum Genet 60 (1997) 1548-1552
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1548-1552
-
-
Stevanin, G.1
-
89
-
-
17744397508
-
Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
-
Jonasson J., et al. Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur J Hum Genet 8 (2000) 918-922
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 918-922
-
-
Jonasson, J.1
-
90
-
-
0042524612
-
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia
-
Leber I., et al. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Archives of Neurology 60 (2003) 1097-1099
-
(2003)
Archives of Neurology
, vol.60
, pp. 1097-1099
-
-
Leber, I.1
-
91
-
-
7044274091
-
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10
-
Teive H.A., et al. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology 63 (2004) 1509-1512
-
(2004)
Neurology
, vol.63
, pp. 1509-1512
-
-
Teive, H.A.1
-
92
-
-
0034902760
-
Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10
-
Rasmussen A., et al. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol 50 (2001) 234-239
-
(2001)
Ann Neurol
, vol.50
, pp. 234-239
-
-
Rasmussen, A.1
-
93
-
-
0035115573
-
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family
-
Fujigasaki H., et al. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann Neurol 49 (2001) 117-121
-
(2001)
Ann Neurol
, vol.49
, pp. 117-121
-
-
Fujigasaki, H.1
-
94
-
-
0036897427
-
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia
-
Cellini E., et al. A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. Arch Neurol 59 (2002) 1952-1953
-
(2002)
Arch Neurol
, vol.59
, pp. 1952-1953
-
-
Cellini, E.1
-
95
-
-
0034700999
-
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
-
Ikeda Y., et al. Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology 54 (2000) 950-955
-
(2000)
Neurology
, vol.54
, pp. 950-955
-
-
Ikeda, Y.1
-
96
-
-
0038479921
-
Do CTG expansions at the SCA8 locus cause ataxia?
-
Schols L., et al. Do CTG expansions at the SCA8 locus cause ataxia?. Ann Neurol 54 (2003) 110-115
-
(2003)
Ann Neurol
, vol.54
, pp. 110-115
-
-
Schols, L.1
-
97
-
-
0034007097
-
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia
-
Worth P.F., et al. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nature Genet 24 (2000) 214-215
-
(2000)
Nature Genet
, vol.24
, pp. 214-215
-
-
Worth, P.F.1
-
98
-
-
0142091175
-
SCA8 repeat expansion coexists with SCA1-not only with SCA6
-
Sulek A., et al. SCA8 repeat expansion coexists with SCA1-not only with SCA6. Am J Hum Genet 73 (2003) 972-974
-
(2003)
Am J Hum Genet
, vol.73
, pp. 972-974
-
-
Sulek, A.1
-
99
-
-
0035833971
-
SCA8 repeat expansions in ataxia: a controversial association
-
Sobrido M.J., et al. SCA8 repeat expansions in ataxia: a controversial association. Neurology 57 (2001) 1310-1312
-
(2001)
Neurology
, vol.57
, pp. 1310-1312
-
-
Sobrido, M.J.1
-
100
-
-
0034606271
-
Long repeat tracts at SCA8 in major psychosis
-
Vincent J.B., et al. Long repeat tracts at SCA8 in major psychosis. Am J Med Genet 96 (2000) 873-876
-
(2000)
Am J Med Genet
, vol.96
, pp. 873-876
-
-
Vincent, J.B.1
-
101
-
-
20344370767
-
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
-
Verbeek D.S., et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 117 (2005) 88-91
-
(2005)
Hum Genet
, vol.117
, pp. 88-91
-
-
Verbeek, D.S.1
-
102
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada A.R., et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (1991) 77-79
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
-
103
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72 (1993) 971-983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
The Huntington's Disease Collaborative Research Group1
-
104
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
-
Jodice C., et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6 (1997) 1973-1978
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
-
105
-
-
0028828776
-
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1
-
Quan F., Janas J., and Popovich B.W. A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet 4 (1995) 2411-2413
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2411-2413
-
-
Quan, F.1
Janas, J.2
Popovich, B.W.3
-
106
-
-
9244229051
-
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
-
Goldfarb L.G., et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 39 (1996) 500-506
-
(1996)
Ann Neurol
, vol.39
, pp. 500-506
-
-
Goldfarb, L.G.1
-
107
-
-
85047698133
-
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles
-
Zuhlke C., et al. Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 10 (2002) 204-209
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 204-209
-
-
Zuhlke, C.1
-
108
-
-
0032539787
-
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia
-
Yabe I., et al. SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J Neurol Sci 156 (1998) 89-95
-
(1998)
J Neurol Sci
, vol.156
, pp. 89-95
-
-
Yabe, I.1
-
109
-
-
0034798064
-
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype
-
van de Warrenburg B.P., et al. Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. J Neurol 248 (2001) 911-914
-
(2001)
J Neurol
, vol.248
, pp. 911-914
-
-
van de Warrenburg, B.P.1
-
110
-
-
10744221735
-
Intergenerational instability and marked anticipation in SCA-17
-
Maltecca F., et al. Intergenerational instability and marked anticipation in SCA-17. Neurology 61 (2003) 1441-1443
-
(2003)
Neurology
, vol.61
, pp. 1441-1443
-
-
Maltecca, F.1
-
111
-
-
12944270425
-
Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus
-
Padiath Q.S., et al. Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus. Am J Med Genet B Neuropsychiatr Genet 133 (2005) 124-126
-
(2005)
Am J Med Genet B Neuropsychiatr Genet
, vol.133
, pp. 124-126
-
-
Padiath, Q.S.1
-
112
-
-
4644262568
-
The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction
-
Gu W., et al. The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction. Eur Neurol 52 (2004) 107-111
-
(2004)
Eur Neurol
, vol.52
, pp. 107-111
-
-
Gu, W.1
-
113
-
-
10744232450
-
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
-
Oda M., et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol 61 (2004) 209-212
-
(2004)
Arch Neurol
, vol.61
, pp. 209-212
-
-
Oda, M.1
-
114
-
-
0037819516
-
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
-
Stevanin G., et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 126 (2003) 1599-1603
-
(2003)
Brain
, vol.126
, pp. 1599-1603
-
-
Stevanin, G.1
-
115
-
-
85081151389
-
Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia
-
Cellini E., et al. Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia. Ann Neurol 56 (2004) 163-164
-
(2004)
Ann Neurol
, vol.56
, pp. 163-164
-
-
Cellini, E.1
-
116
-
-
0032718032
-
Definition of the smallest pathological CAG expansion in SCA7
-
Nardacchione A., et al. Definition of the smallest pathological CAG expansion in SCA7. Clin Genet 56 (1999) 232-234
-
(1999)
Clin Genet
, vol.56
, pp. 232-234
-
-
Nardacchione, A.1
-
117
-
-
0031712507
-
De novo expansion of intermediate alleles in spinocerebellar ataxia 7
-
Stevanin G., et al. De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum Mol Genet 7 (1998) 1809-1813
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1809-1813
-
-
Stevanin, G.1
-
118
-
-
0037321835
-
Phenotypical variability of expanded alleles in the TATA-binding protein gene: reduced penetrance in SCA17?
-
Zuhlke C., et al. Phenotypical variability of expanded alleles in the TATA-binding protein gene: reduced penetrance in SCA17?. J Neurol 250 (2003) 161-163
-
(2003)
J Neurol
, vol.250
, pp. 161-163
-
-
Zuhlke, C.1
-
119
-
-
26444569294
-
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
-
Zuhlke C., et al. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet 6 (2005) 27
-
(2005)
BMC Med Genet
, vol.6
, pp. 27
-
-
Zuhlke, C.1
-
120
-
-
0033776246
-
Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia
-
Katayama T., et al. Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia. J Neurol 247 (2000) 711-712
-
(2000)
J Neurol
, vol.247
, pp. 711-712
-
-
Katayama, T.1
-
121
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
-
Matsuyama Z., et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 6 (1997) 1283-1287
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1283-1287
-
-
Matsuyama, Z.1
-
122
-
-
0035076389
-
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
-
Zuhlke C., et al. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet 9 (2001) 160-164
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 160-164
-
-
Zuhlke, C.1
-
123
-
-
0343820077
-
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
-
Stevanin G., Durr A., and Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 8 (2000) 4-18
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 4-18
-
-
Stevanin, G.1
Durr, A.2
Brice, A.3
-
124
-
-
0036941554
-
Spinocerebellar ataxias caused by polyglutamine expansions
-
Stevanin G., Durr A., and Brice A. Spinocerebellar ataxias caused by polyglutamine expansions. Adv Exp Med Biol 516 (2002) 47-77
-
(2002)
Adv Exp Med Biol
, vol.516
, pp. 47-77
-
-
Stevanin, G.1
Durr, A.2
Brice, A.3
-
125
-
-
0028815025
-
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure O., et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45 (1995) 143-149
-
(1995)
Neurology
, vol.45
, pp. 143-149
-
-
Komure, O.1
-
126
-
-
0028958153
-
A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families
-
Warner T.T., et al. A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol 37 (1995) 452-459
-
(1995)
Ann Neurol
, vol.37
, pp. 452-459
-
-
Warner, T.T.1
-
127
-
-
0029044667
-
Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
-
Ikeuchi T., et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37 (1995) 769-775
-
(1995)
Ann Neurol
, vol.37
, pp. 769-775
-
-
Ikeuchi, T.1
-
128
-
-
0028927926
-
Elongated CAG repeats of the B37 gene in a Danish family with dentatorubro-pallido-luysian atrophy
-
Norremolle A., et al. Elongated CAG repeats of the B37 gene in a Danish family with dentatorubro-pallido-luysian atrophy. Hum Genet 95 (1995) 313-318
-
(1995)
Hum Genet
, vol.95
, pp. 313-318
-
-
Norremolle, A.1
-
129
-
-
0029035379
-
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli(SCA6)
-
Kang S., et al. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli(SCA6). Nature Genet 10 (1995) 213-218
-
(1995)
Nature Genet
, vol.10
, pp. 213-218
-
-
Kang, S.1
-
130
-
-
2442761245
-
Intergenerational instability of the CAG repeat of the Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat
-
Igarashi S., et al. Intergenerational instability of the CAG repeat of the Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum Mol Genet 5 (1996) 923-932
-
(1996)
Hum Mol Genet
, vol.5
, pp. 923-932
-
-
Igarashi, S.1
-
131
-
-
8544224974
-
Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability
-
Takiyama Y., et al. Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability. Hum Mol Genet 6 (1997) 1063-1068
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1063-1068
-
-
Takiyama, Y.1
-
132
-
-
12244311838
-
Genomic context drives SCA7 CAG repeat instability while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
-
Libby R.T., et al. Genomic context drives SCA7 CAG repeat instability while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum Mol Genet 12 (2003) 41-50
-
(2003)
Hum Mol Genet
, vol.12
, pp. 41-50
-
-
Libby, R.T.1
-
133
-
-
0032971232
-
Cis-Acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands
-
Brock G.J., Anderson N.H., and Monckton D.G. Cis-Acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Hum Mol Genet 8 (1999) 1061-1067
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1061-1067
-
-
Brock, G.J.1
Anderson, N.H.2
Monckton, D.G.3
-
134
-
-
0032712586
-
Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
-
Monckton D.G., et al. Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum Mol Genet 8 (1999) 2473-2478
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2473-2478
-
-
Monckton, D.G.1
-
135
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G., et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7 (1998) 165-170
-
(1998)
Hum Mol Genet
, vol.7
, pp. 165-170
-
-
David, G.1
-
136
-
-
0031606735
-
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease
-
Cancel G., et al. Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease. Human Mutation 11 (1998) 23-27
-
(1998)
Human Mutation
, vol.11
, pp. 23-27
-
-
Cancel, G.1
-
137
-
-
0028916306
-
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
-
Ueno S., et al. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet 4 (1995) 663-666
-
(1995)
Hum Mol Genet
, vol.4
, pp. 663-666
-
-
Ueno, S.1
-
138
-
-
9444262436
-
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease
-
Lopes-Cendes I., et al. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 40 (1996) 199-206
-
(1996)
Ann Neurol
, vol.40
, pp. 199-206
-
-
Lopes-Cendes, I.1
-
139
-
-
0029988921
-
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability
-
Takano H., et al. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 58 (1996) 1212-1222
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1212-1222
-
-
Takano, H.1
-
140
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong S.S., et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet 10 (1995) 344-350
-
(1995)
Nature Genet
, vol.10
, pp. 344-350
-
-
Chong, S.S.1
-
141
-
-
9044236911
-
A unique origin and multistep process for the generation of expanded DRPLA triplet repeats
-
Yanagisawa H., et al. A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum Mol Genet 5 (1996) 373-379
-
(1996)
Hum Mol Genet
, vol.5
, pp. 373-379
-
-
Yanagisawa, H.1
-
142
-
-
0032231668
-
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
-
Takano H., et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 63 (1998) 1060-1066
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1060-1066
-
-
Takano, H.1
-
143
-
-
17844404576
-
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family
-
Mittal U., et al. Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. J Hum Genet 50 (2005) 155-157
-
(2005)
J Hum Genet
, vol.50
, pp. 155-157
-
-
Mittal, U.1
-
144
-
-
4344635593
-
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7
-
Bauer P., et al. Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7. J Neurol 251 (2004) 1023-1024
-
(2004)
J Neurol
, vol.251
, pp. 1023-1024
-
-
Bauer, P.1
-
145
-
-
9444224946
-
Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease
-
Shatunov A., et al. Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. Clin Genet 66 (2004) 496-501
-
(2004)
Clin Genet
, vol.66
, pp. 496-501
-
-
Shatunov, A.1
-
146
-
-
0031442152
-
Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population
-
Ikeuchi T., et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 42 (1997) 879-884
-
(1997)
Ann Neurol
, vol.42
, pp. 879-884
-
-
Ikeuchi, T.1
-
147
-
-
0028797080
-
Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy
-
Potter N.T., et al. Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. Ann Neurol 37 (1995) 273-277
-
(1995)
Ann Neurol
, vol.37
, pp. 273-277
-
-
Potter, N.T.1
-
148
-
-
0031454530
-
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
-
Gomez C.M., et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 42 (1997) 933-950
-
(1997)
Ann Neurol
, vol.42
, pp. 933-950
-
-
Gomez, C.M.1
-
149
-
-
0031960474
-
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
-
Schols L., et al. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 64 (1998) 67-73
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 67-73
-
-
Schols, L.1
-
150
-
-
0031929063
-
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6
-
Watanabe H., et al. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clin Genet 53 (1998) 13-19
-
(1998)
Clin Genet
, vol.53
, pp. 13-19
-
-
Watanabe, H.1
-
151
-
-
0030699138
-
Spinocerebellar ataxia type 6: frequency of the mutation and genotype-phenotype correlations
-
Geschwind D.H., et al. Spinocerebellar ataxia type 6: frequency of the mutation and genotype-phenotype correlations. Neurology 49 (1997) 1247-1251
-
(1997)
Neurology
, vol.49
, pp. 1247-1251
-
-
Geschwind, D.H.1
-
152
-
-
16344388976
-
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort
-
van de Warrenburg B.P., et al. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol 57 (2005) 505-512
-
(2005)
Ann Neurol
, vol.57
, pp. 505-512
-
-
van de Warrenburg, B.P.1
-
153
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features
-
Durr A., et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 39 (1996) 490-499
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Durr, A.1
-
154
-
-
0033867386
-
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
-
Hayes S., et al. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Hum Mol Genet 9 (2000) 1753-1758
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1753-1758
-
-
Hayes, S.1
-
155
-
-
26044439653
-
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset
-
Pulst S.M., et al. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain 128 (2005) 2297-2303
-
(2005)
Brain
, vol.128
, pp. 2297-2303
-
-
Pulst, S.M.1
-
156
-
-
0038042172
-
Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
-
Chattopadhyay B., et al. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci Lett 345 (2003) 93-96
-
(2003)
Neurosci Lett
, vol.345
, pp. 93-96
-
-
Chattopadhyay, B.1
-
157
-
-
0029890963
-
A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease
-
DeStefano A.L., et al. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet 59 (1996) 119-127
-
(1996)
Am J Hum Genet
, vol.59
, pp. 119-127
-
-
DeStefano, A.L.1
-
158
-
-
0033864227
-
Clinical and genetic aspects of spinocerebellar degeneration
-
Durr A., and Brice A. Clinical and genetic aspects of spinocerebellar degeneration. Curr Opin Neurol 13 (2000) 407-413
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 407-413
-
-
Durr, A.1
Brice, A.2
-
159
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P., et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 57 (1995) 54-61
-
(1995)
Am J Hum Genet
, vol.57
, pp. 54-61
-
-
Maciel, P.1
-
160
-
-
0027742974
-
Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity
-
Durr A., et al. Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 116 (1993) 1497-1508
-
(1993)
Brain
, vol.116
, pp. 1497-1508
-
-
Durr, A.1
-
161
-
-
9044227266
-
Clinical features and natural history of spinocerebellar ataxia type 1
-
Sasaki H., et al. Clinical features and natural history of spinocerebellar ataxia type 1. Acta Neurol Scand 93 (1996) 64-71
-
(1996)
Acta Neurol Scand
, vol.93
, pp. 64-71
-
-
Sasaki, H.1
-
162
-
-
0037320236
-
Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3
-
Burk K., et al. Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3. J Neurol 250 (2003) 207-211
-
(2003)
J Neurol
, vol.250
, pp. 207-211
-
-
Burk, K.1
-
163
-
-
1642430578
-
The cerebellum and cognition: intellectual function in spinocerebellar ataxia type 6 (SCA6)
-
Globas C., et al. The cerebellum and cognition: intellectual function in spinocerebellar ataxia type 6 (SCA6). J Neurol 250 (2003) 1482-1487
-
(2003)
J Neurol
, vol.250
, pp. 1482-1487
-
-
Globas, C.1
-
164
-
-
0004799163
-
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation
-
Giunti P., et al. Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 64 (1999) 1594-1603
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1594-1603
-
-
Giunti, P.1
-
165
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I
-
Jodice C., et al. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. Am J Hum Genet 54 (1994) 959-965
-
(1994)
Am J Hum Genet
, vol.54
, pp. 959-965
-
-
Jodice, C.1
-
166
-
-
0037393199
-
Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6)
-
Yabe I., et al. Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6). J Neurol 250 (2003) 440-443
-
(2003)
J Neurol
, vol.250
, pp. 440-443
-
-
Yabe, I.1
-
167
-
-
0028877774
-
Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations
-
Dubourg O., et al. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 37 (1995) 176-180
-
(1995)
Ann Neurol
, vol.37
, pp. 176-180
-
-
Dubourg, O.1
-
168
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families
-
Cancel G., et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 6 (1997) 709-715
-
(1997)
Hum Mol Genet
, vol.6
, pp. 709-715
-
-
Cancel, G.1
-
169
-
-
0032819569
-
Spinocerebellar ataxia type 7 (SCA7): correlations between phenotype and genotype in one large Belgian family
-
Martin J., et al. Spinocerebellar ataxia type 7 (SCA7): correlations between phenotype and genotype in one large Belgian family. J Neurol Sci 168 (1999) 37-46
-
(1999)
J Neurol Sci
, vol.168
, pp. 37-46
-
-
Martin, J.1
-
170
-
-
1542360717
-
Focal dystonia as a presenting sign of spinocerebellar ataxia 17
-
Hagenah J.M., et al. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov Disord 19 (2004) 217-220
-
(2004)
Mov Disord
, vol.19
, pp. 217-220
-
-
Hagenah, J.M.1
-
171
-
-
0037177106
-
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy
-
Filla A., et al. Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. Neurology 58 (2002) 922-928
-
(2002)
Neurology
, vol.58
, pp. 922-928
-
-
Filla, A.1
-
172
-
-
0034783914
-
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
-
Fujigasaki H., et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124 (2001) 1939-1947
-
(2001)
Brain
, vol.124
, pp. 1939-1947
-
-
Fujigasaki, H.1
-
173
-
-
12144286184
-
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype
-
Bauer P., et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 41 (2004) 230-232
-
(2004)
J Med Genet
, vol.41
, pp. 230-232
-
-
Bauer, P.1
-
174
-
-
0842282678
-
SCA17 homozygote showing Huntington's disease-like phenotype
-
Toyoshima Y., et al. SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol 55 (2004) 281-286
-
(2004)
Ann Neurol
, vol.55
, pp. 281-286
-
-
Toyoshima, Y.1
-
175
-
-
10744231577
-
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease
-
Wu Y.R., et al. Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin Genet 65 (2004) 209-214
-
(2004)
Clin Genet
, vol.65
, pp. 209-214
-
-
Wu, Y.R.1
-
176
-
-
0142248484
-
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17
-
De Michele G., et al. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol Sci 24 (2003) 166-167
-
(2003)
Neurol Sci
, vol.24
, pp. 166-167
-
-
De Michele, G.1
-
177
-
-
20244380183
-
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases
-
Wu Y.R., et al. Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. J Neural Transm 112 (2005) 539-546
-
(2005)
J Neural Transm
, vol.112
, pp. 539-546
-
-
Wu, Y.R.1
-
178
-
-
0028025275
-
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
-
Belal S., et al. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 44 (1994) 1423-1426
-
(1994)
Neurology
, vol.44
, pp. 1423-1426
-
-
Belal, S.1
-
179
-
-
1042291156
-
Peripheral nerve involvement in spinocerebellar ataxias
-
van de Warrenburg B.P., et al. Peripheral nerve involvement in spinocerebellar ataxias. J Paediatr Child Health 61 (2004) 257-261
-
(2004)
J Paediatr Child Health
, vol.61
, pp. 257-261
-
-
van de Warrenburg, B.P.1
-
180
-
-
0029090063
-
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion
-
Tuite P.J., et al. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 38 (1995) 684-687
-
(1995)
Ann Neurol
, vol.38
, pp. 684-687
-
-
Tuite, P.J.1
-
181
-
-
3242660950
-
The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family
-
Lu C.S., et al. The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family. Parkinsonism Relat Disord 10 (2004) 369-373
-
(2004)
Parkinsonism Relat Disord
, vol.10
, pp. 369-373
-
-
Lu, C.S.1
-
182
-
-
0036765066
-
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians
-
Subramony S.H., et al. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord 17 (2002) 1068-1071
-
(2002)
Mov Disord
, vol.17
, pp. 1068-1071
-
-
Subramony, S.H.1
-
183
-
-
0038504370
-
Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family
-
Wilder-Smith E., et al. Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family. J Neurol Sci 213 (2003) 25-28
-
(2003)
J Neurol Sci
, vol.213
, pp. 25-28
-
-
Wilder-Smith, E.1
-
184
-
-
4444314941
-
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
-
Furtado S., et al. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 19 (2004) 622-629
-
(2004)
Mov Disord
, vol.19
, pp. 622-629
-
-
Furtado, S.1
-
185
-
-
0347985269
-
The parkinsonian phenotype of spinocerebellar ataxia type 2
-
Lu C.S., et al. The parkinsonian phenotype of spinocerebellar ataxia type 2. J Paediatr Child Health 61 (2004) 35-38
-
(2004)
J Paediatr Child Health
, vol.61
, pp. 35-38
-
-
Lu, C.S.1
-
186
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Durr A., et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118 (1995) 1573-1581
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Durr, A.1
-
187
-
-
0029431673
-
Does homozygosity advance the onset of dentatorubralpallidoluysian atrophy?
-
Sato K., et al. Does homozygosity advance the onset of dentatorubralpallidoluysian atrophy?. Neurology 45 (1995) 1934-1936
-
(1995)
Neurology
, vol.45
, pp. 1934-1936
-
-
Sato, K.1
-
188
-
-
0029878024
-
Homozygosity for Machado-Joseph disease gene enhances phenotypic severity [letter]
-
Sobue G., et al. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity [letter]. J Neurol Neurosurg Psychiatry 60 (1996) 354-356
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.60
, pp. 354-356
-
-
Sobue, G.1
-
189
-
-
0037379416
-
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
-
Squitieri F., et al. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 126 (2003) 946-955
-
(2003)
Brain
, vol.126
, pp. 946-955
-
-
Squitieri, F.1
-
190
-
-
4544320300
-
Dystonia as a presenting sign of spinocerebellar ataxia type 1
-
Wu Y.R., et al. Dystonia as a presenting sign of spinocerebellar ataxia type 1. Mov Disord 19 (2004) 586-587
-
(2004)
Mov Disord
, vol.19
, pp. 586-587
-
-
Wu, Y.R.1
-
191
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin G., et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 49 (1997) 1243-1246
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
-
192
-
-
4444292910
-
Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats
-
Ansorge O., et al. Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats. Ann Neurol 56 (2004) 448-452
-
(2004)
Ann Neurol
, vol.56
, pp. 448-452
-
-
Ansorge, O.1
-
193
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions
-
Holmberg M., et al. Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 7 (1998) 913-918
-
(1998)
Hum Mol Genet
, vol.7
, pp. 913-918
-
-
Holmberg, M.1
-
194
-
-
0345391031
-
Nuclear inclusions in spinocerebellar ataxia type 1
-
Duyckaerts C., et al. Nuclear inclusions in spinocerebellar ataxia type 1. Acta Neuropathol (Berl) 97 (1999) 201-207
-
(1999)
Acta Neuropathol (Berl)
, vol.97
, pp. 201-207
-
-
Duyckaerts, C.1
-
195
-
-
0033639208
-
Distribution of ataxin-7 in normal human brain and retina
-
Cancel G., et al. Distribution of ataxin-7 in normal human brain and retina. Brain 123 (2000) 2519-2530
-
(2000)
Brain
, vol.123
, pp. 2519-2530
-
-
Cancel, G.1
-
196
-
-
0035288035
-
Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients
-
Einum D.D., et al. Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. Neurogenetics 3 (2001) 83-90
-
(2001)
Neurogenetics
, vol.3
, pp. 83-90
-
-
Einum, D.D.1
-
197
-
-
0032475877
-
Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?
-
Sisodia S.S. Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?. Cell 95 (1998) 1-4
-
(1998)
Cell
, vol.95
, pp. 1-4
-
-
Sisodia, S.S.1
-
198
-
-
4043175666
-
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
-
Bruni A.C., et al. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Arch Neurol 61 (2004) 1314-1320
-
(2004)
Arch Neurol
, vol.61
, pp. 1314-1320
-
-
Bruni, A.C.1
-
199
-
-
0032475931
-
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
-
Saudou F., et al. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95 (1998) 55-66
-
(1998)
Cell
, vol.95
, pp. 55-66
-
-
Saudou, F.1
-
200
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement I.A., et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95 (1998) 41-53
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
-
201
-
-
18644379256
-
Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
-
Katsuno M., et al. Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35 (2002) 843-854
-
(2002)
Neuron
, vol.35
, pp. 843-854
-
-
Katsuno, M.1
-
202
-
-
0037194896
-
Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila
-
Takeyama K., et al. Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 35 (2002) 855-864
-
(2002)
Neuron
, vol.35
, pp. 855-864
-
-
Takeyama, K.1
-
203
-
-
3042771651
-
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes
-
Helmlinger D., et al. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet 13 (2004) 1257-1265
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1257-1265
-
-
Helmlinger, D.1
-
204
-
-
0037160106
-
Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities
-
Li F., et al. Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities. J Biol Chem 277 (2002) 45004-45012
-
(2002)
J Biol Chem
, vol.277
, pp. 45004-45012
-
-
Li, F.1
-
205
-
-
0033818112
-
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription
-
Shimohata T., et al. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet 26 (2000) 29-36
-
(2000)
Nat Genet
, vol.26
, pp. 29-36
-
-
Shimohata, T.1
-
206
-
-
0035168621
-
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract
-
Yue S., et al. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum Mol Genet 10 (2001) 25-30
-
(2001)
Hum Mol Genet
, vol.10
, pp. 25-30
-
-
Yue, S.1
-
207
-
-
14044266141
-
RNA association and nucleocytoplasmic shuttling by ataxin-1
-
Irwin S., et al. RNA association and nucleocytoplasmic shuttling by ataxin-1. J Cell Sci 118 (2005) 233-242
-
(2005)
J Cell Sci
, vol.118
, pp. 233-242
-
-
Irwin, S.1
-
208
-
-
12344317072
-
An integrative approach to gain insights into the cellular function of human ataxin-2
-
Ralser M., et al. An integrative approach to gain insights into the cellular function of human ataxin-2. J Mol Biol 346 (2005) 203-214
-
(2005)
J Mol Biol
, vol.346
, pp. 203-214
-
-
Ralser, M.1
-
209
-
-
3242890363
-
Structural and functional analysis of ataxin-2 and ataxin-3
-
Albrecht M., et al. Structural and functional analysis of ataxin-2 and ataxin-3. Eur J Biochem 271 (2004) 3155-3170
-
(2004)
Eur J Biochem
, vol.271
, pp. 3155-3170
-
-
Albrecht, M.1
-
210
-
-
7244226381
-
ATX-2, the C. elegans ortholog of ataxin 2, functions in trans-lational regulation in the germline
-
Ciosk R., DePalma M., and Priess J.R. ATX-2, the C. elegans ortholog of ataxin 2, functions in trans-lational regulation in the germline. Development 131 (2004) 4831-4841
-
(2004)
Development
, vol.131
, pp. 4831-4841
-
-
Ciosk, R.1
DePalma, M.2
Priess, J.R.3
-
211
-
-
17944370599
-
Polyglutamine-expanded ataxin-7 antagonizes crx function and induces cone-rod dystrophy in a mouse model of SCA7
-
La Spada A.R., et al. Polyglutamine-expanded ataxin-7 antagonizes crx function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron 31 (2001) 913-927
-
(2001)
Neuron
, vol.31
, pp. 913-927
-
-
La Spada, A.R.1
-
212
-
-
18444403420
-
Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death
-
Okazawa H., et al. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron 34 (2002) 701-713
-
(2002)
Neuron
, vol.34
, pp. 701-713
-
-
Okazawa, H.1
-
213
-
-
0033995175
-
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
-
Lin X., et al. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci 3 (2000) 157-163
-
(2000)
Nat Neurosci
, vol.3
, pp. 157-163
-
-
Lin, X.1
-
214
-
-
19544374135
-
Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice
-
Serra H.G., et al. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet 13 (2004) 2535-2543
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2535-2543
-
-
Serra, H.G.1
-
215
-
-
3042717240
-
Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation
-
Schaffar G., et al. Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation. Mol Cell 15 (2004) 95-105
-
(2004)
Mol Cell
, vol.15
, pp. 95-105
-
-
Schaffar, G.1
-
216
-
-
13244258435
-
Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation
-
Bennett E.J., et al. Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation. Mol Cell 17 (2005) 351-365
-
(2005)
Mol Cell
, vol.17
, pp. 351-365
-
-
Bennett, E.J.1
-
217
-
-
22844451581
-
Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product
-
Park Y., et al. Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product. Mol Cells 19 (2005) 23-30
-
(2005)
Mol Cells
, vol.19
, pp. 23-30
-
-
Park, Y.1
-
218
-
-
20844441094
-
Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity
-
McMahon S.J., et al. Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proc Natl Acad Sci USA 102 (2005) 8478-8482
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 8478-8482
-
-
McMahon, S.J.1
-
219
-
-
20844444637
-
Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration
-
Palhan V.B., et al. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci USA 102 (2005) 8472-8477
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 8472-8477
-
-
Palhan, V.B.1
-
220
-
-
27744560978
-
A role for both wild-type and expanded ataxin-7 in transcriptional regulation
-
Strom A.L., Forsgren L., and Holmberg M. A role for both wild-type and expanded ataxin-7 in transcriptional regulation. Neurobiol Dis 20 (2005) 646-655
-
(2005)
Neurobiol Dis
, vol.20
, pp. 646-655
-
-
Strom, A.L.1
Forsgren, L.2
Holmberg, M.3
-
221
-
-
0038399741
-
Molecular investigation of TBP allele length: a SCA17 cellular model and population study
-
Reid S.J., et al. Molecular investigation of TBP allele length: a SCA17 cellular model and population study. Neurobiol Dis 13 (2003) 37-45
-
(2003)
Neurobiol Dis
, vol.13
, pp. 37-45
-
-
Reid, S.J.1
-
222
-
-
0033111229
-
Autosomal dominant spinocerebellar degenerations: clinical, pathological, and genetic correlations
-
Iwabuchi K., et al. Autosomal dominant spinocerebellar degenerations: clinical, pathological, and genetic correlations. Rev Neurol (Paris) 155 (1999) 255-270
-
(1999)
Rev Neurol (Paris)
, vol.155
, pp. 255-270
-
-
Iwabuchi, K.1
-
223
-
-
17844392364
-
The pathogenesis of spinocerebellar ataxia
-
Koeppen A.H. The pathogenesis of spinocerebellar ataxia. Cerebellum 4 (2005) 62-73
-
(2005)
Cerebellum
, vol.4
, pp. 62-73
-
-
Koeppen, A.H.1
-
224
-
-
0031714729
-
Molecular and clinical studies in SCA7 define a broad clinical spectrum and the infantile phenotype
-
Benton C.S., et al. Molecular and clinical studies in SCA7 define a broad clinical spectrum and the infantile phenotype. Neurology 51 (1998) 1081-1086
-
(1998)
Neurology
, vol.51
, pp. 1081-1086
-
-
Benton, C.S.1
-
225
-
-
18444411305
-
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7
-
Mao R., et al. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet 110 (2002) 338-345
-
(2002)
Am J Med Genet
, vol.110
, pp. 338-345
-
-
Mao, R.1
-
226
-
-
2342633210
-
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
-
Cagnoli C., et al. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn 6 (2004) 96-100
-
(2004)
J Mol Diagn
, vol.6
, pp. 96-100
-
-
Cagnoli, C.1
-
227
-
-
32944454491
-
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction
-
Cagnoli C., et al. Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction. J Mol Diagn 8 (2006) 28-32
-
(2006)
J Mol Diagn
, vol.8
, pp. 28-32
-
-
Cagnoli, C.1
-
228
-
-
0028470671
-
International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease
-
World Federation of Neurology Research Group on Huntington's Chorea. International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 31 (1994) 555-559
-
(1994)
J Med Genet
, vol.31
, pp. 555-559
-
-
World Federation of Neurology Research Group on Huntington's Chorea1
-
229
-
-
0037069272
-
Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias
-
Goizet C., Lesca G., and Durr A. Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. Neurology 59 (2002) 1330-1336
-
(2002)
Neurology
, vol.59
, pp. 1330-1336
-
-
Goizet, C.1
Lesca, G.2
Durr, A.3
-
230
-
-
0036074117
-
Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia
-
Lesca G., Goizet C., and Durr A. Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia. J Med Genet 39 (2002) 522-525
-
(2002)
J Med Genet
, vol.39
, pp. 522-525
-
-
Lesca, G.1
Goizet, C.2
Durr, A.3
-
231
-
-
0036238233
-
The aetiology of sporadic adult-onset ataxia
-
Abele M., et al. The aetiology of sporadic adult-onset ataxia. Brain 125 (2002) 961-968
-
(2002)
Brain
, vol.125
, pp. 961-968
-
-
Abele, M.1
-
232
-
-
0038796980
-
Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients
-
Lee W.Y., et al. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. Arch Neurol 60 (2003) 858-863
-
(2003)
Arch Neurol
, vol.60
, pp. 858-863
-
-
Lee, W.Y.1
-
233
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman R.J., et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57 (2001) 127-130
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
-
234
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman R.J., et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74 (2004) 1051-1056
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
-
235
-
-
19944425949
-
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
-
Brussino A., et al. FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 64 (2005) 145-147
-
(2005)
Neurology
, vol.64
, pp. 145-147
-
-
Brussino, A.1
|