-
1
-
-
0031647246
-
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
-
M.L. Moseley, K.A. Benzow, L.J. Schut, T.D. Bird, C.M. Gomez, and P.E. Barkhaus 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
Benzow, K.A.2
Schut, L.J.3
Bird, T.D.4
Gomez, C.M.5
Barkhaus, P.E.6
-
2
-
-
0034093161
-
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
-
B. Tang, C. Liu, L. Shen, H. Dai, Q. Pan, and L. Jing Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds Arch Neurol 57 2000 540 544
-
(2000)
Arch Neurol
, vol.57
, pp. 540-544
-
-
Tang, B.1
Liu, C.2
Shen, L.3
Dai, H.4
Pan, Q.5
Jing, L.6
-
3
-
-
0034061759
-
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
-
Q. Saleem, S. Choudhry, M. Mukerji, L. Bashyam, M.V. Padma, and A. Chakravarthy 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
Choudhry, S.2
Mukerji, M.3
Bashyam, L.4
Padma, M.V.5
Chakravarthy, A.6
-
4
-
-
0036220140
-
Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG)n allele at the SCA17 locus
-
I. Silveira, C. Miranda, L. Guimaraes, M.C. Moreira, I. Alonso, and P. Mendonca 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
Miranda, C.2
Guimaraes, L.3
Moreira, M.C.4
Alonso, I.5
Mendonca, P.6
-
5
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
-
B.P. van de Warrenburg, R.J. Sinke, C.C. Verschuuren-Bemelmans, H. Scheffer, E.R. Brunt, and P.F. Ippel 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
Sinke, R.J.2
Verschuuren-Bemelmans, C.C.3
Scheffer, H.4
Brunt, E.R.5
Ippel, P.F.6
-
6
-
-
0242607883
-
The hereditary adult-onset ataxias in South Africa
-
A. Bryer, A. Krause, P. Bill, V. Davids, D. Bryant, and J. Butler 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
Krause, A.2
Bill, P.3
Davids, V.4
Bryant, D.5
Butler, J.6
-
7
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
L. Schols, P. Bauer, T. Schmidt, T. Schulte, and O. Riess Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis Lancet Neurol 3 2004 291 304
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
8
-
-
2442464954
-
Molecular genetics of hereditary spinocerebellar ataxia: Mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
-
A. Brusco, C. Gellera, C. Cagnoli, A. Saluto, A. Castucci, and C. Michielotto 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
Gellera, C.2
Cagnoli, C.3
Saluto, A.4
Castucci, A.5
Michielotto, C.6
-
9
-
-
0036238233
-
The aetiology of sporadic adult-onset ataxia
-
M. Abele, K. Burk, L. Schols, S. Schwartz, I. Besenthal, and J. Dichgans The aetiology of sporadic adult-onset ataxia Brain 125 Pt 5 2002 961 968
-
(2002)
Brain
, vol.125
, Issue.5 PART
, pp. 961-968
-
-
Abele, M.1
Burk, K.2
Schols, L.3
Schwartz, S.4
Besenthal, I.5
Dichgans, J.6
-
10
-
-
0032777834
-
Spinocerebellar ataxias in Spanish patients: Genetic analysis of familial and sporadic cases. the Ataxia Study Group
-
M.A. Pujana, J. Corral, M. Gratacos, O. Combarros, J. Berciano, and D. Genis Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group Hum Genet 104 6 1999 516 522
-
(1999)
Hum Genet
, vol.104
, Issue.6
, pp. 516-522
-
-
Pujana, M.A.1
Corral, J.2
Gratacos, M.3
Combarros, O.4
Berciano, J.5
Genis, D.6
-
11
-
-
0033811949
-
Genetic background of apparently idiopathic sporadic cerebellar ataxia
-
L. Schols, S. Szymanski, S. Peters, H. Przuntek, J. Epplen, and C. Hardt Genetic background of apparently idiopathic sporadic cerebellar ataxia Hum Genet 107 2000 132 137
-
(2000)
Hum Genet
, vol.107
, pp. 132-137
-
-
Schols, L.1
Szymanski, S.2
Peters, S.3
Przuntek, H.4
Epplen, J.5
Hardt, C.6
-
12
-
-
85047698133
-
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
-
C. Zuhlke, A. Dalski, Y. Hellenbroich, S. Bubel, E. Schwinger, and K. Burk Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles Eur J Hum Genet 10 3 2002 204 209
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.3
, pp. 204-209
-
-
Zuhlke, C.1
Dalski, A.2
Hellenbroich, Y.3
Bubel, S.4
Schwinger, E.5
Burk, K.6
-
13
-
-
0033845533
-
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease
-
M. Fernandez, M.E. McClain, R.A. Martinez, K. Snow, H. Lipe, and J. Ravits Late-onset SCA2: 33 CAG repeats are sufficient to cause disease Neurology 55 4 2000 569 572
-
(2000)
Neurology
, vol.55
, Issue.4
, pp. 569-572
-
-
Fernandez, M.1
McClain, M.E.2
Martinez, R.A.3
Snow, K.4
Lipe, H.5
Ravits, J.6
-
14
-
-
0035722193
-
A case of Machado-Joseph disease presenting pure cerebellar ataxia
-
K. Ogawa, Y. Suzuki, M. Oishi, T. Mizutani, and T. Nakayama A case of Machado-Joseph disease presenting pure cerebellar ataxia Rinsho Shinkeigaku 41 8 2001 512 514
-
(2001)
Rinsho Shinkeigaku
, vol.41
, Issue.8
, pp. 512-514
-
-
Ogawa, K.1
Suzuki, Y.2
Oishi, M.3
Mizutani, T.4
Nakayama, T.5
-
15
-
-
0038479921
-
Do CTG expansions at the SCA8 locus cause ataxia?
-
L. Schols, I. Bauer, C. Zuhlke, T. Schulte, C. Kolmel, and K. Burk Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol 54 1 2003 110 115
-
(2003)
Ann Neurol
, vol.54
, Issue.1
, pp. 110-115
-
-
Schols, L.1
Bauer, I.2
Zuhlke, C.3
Schulte, T.4
Kolmel, C.5
Burk, K.6
-
16
-
-
0034700999
-
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
-
Y. Ikeda, M. Shizuka, M. Watanabe, K. Okamoto, and M. Shoji Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan Neurology 54 4 2000 950 955
-
(2000)
Neurology
, vol.54
, Issue.4
, pp. 950-955
-
-
Ikeda, Y.1
Shizuka, M.2
Watanabe, M.3
Okamoto, K.4
Shoji, M.5
-
17
-
-
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
-
I. Yamashita, H. Sasaki, I. Yabe, T. Fukazawa, S. Nogoshi, and K. Komeichi 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 48 2 2000 156 163
-
(2000)
Ann Neurol
, vol.48
, Issue.2
, pp. 156-163
-
-
Yamashita, I.1
Sasaki, H.2
Yabe, I.3
Fukazawa, T.4
Nogoshi, S.5
Komeichi, K.6
-
18
-
-
0036340697
-
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter
-
Z. Brkanac, L. Bylenok, M. Fernandez, M. Matsushita, H. Lipe, and J. Wolff A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter Arch Neurol 59 8 2002 1291 1295
-
(2002)
Arch Neurol
, vol.59
, Issue.8
, pp. 1291-1295
-
-
Brkanac, Z.1
Bylenok, L.2
Fernandez, M.3
Matsushita, M.4
Lipe, H.5
Wolff, J.6
-
19
-
-
0038281167
-
Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
-
J. Macpherson, A. Waghorn, S. Hammans, and P. Jacobs Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia (Letter) Hum Genet 112 2003 619 620
-
(2003)
Hum Genet
, vol.112
, pp. 619-620
-
-
MacPherson, J.1
Waghorn, A.2
Hammans, S.3
Jacobs, P.4
-
20
-
-
0019484086
-
"idiopathic" late onset cerebellar ataxia. a clinical and genetic study of 36 cases
-
A.E. Harding "Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases J Neurol Sci 51 2 1981 259 271
-
(1981)
J Neurol Sci
, vol.51
, Issue.2
, pp. 259-271
-
-
Harding, A.E.1
-
21
-
-
0030776159
-
Progressive ataxia due to a missense mutation in a calcium-channel gene
-
Q. Yue, J.C. Jen, S.F. Nelson, and R.W. Baloh Progressive ataxia due to a missense mutation in a calcium-channel gene Am J Hum Genet 61 5 1997 1078 1087
-
(1997)
Am J Hum Genet
, vol.61
, Issue.5
, pp. 1078-1087
-
-
Yue, Q.1
Jen, J.C.2
Nelson, S.F.3
Baloh, R.W.4
-
22
-
-
0347722572
-
Clinical spectrum of episodic ataxia type 2
-
J. Jen, G.W. Kim, and R.W. Baloh Clinical spectrum of episodic ataxia type 2 Neurology 62 1 2004 17 22
-
(2004)
Neurology
, vol.62
, Issue.1
, pp. 17-22
-
-
Jen, J.1
Kim, G.W.2
Baloh, R.W.3
-
24
-
-
0028064598
-
Age-related changes in visual tracking
-
C. Moschner, and R.W. Baloh Age-related changes in visual tracking J Gerontol 49 1994 M235 M238
-
(1994)
J Gerontol
, vol.49
-
-
Moschner, C.1
Baloh, R.W.2
-
25
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
H.T. Orr, M.Y. Chung, S. Banfi, T.J. Kwiatkowski Jr., A. Servadio, and A.L. Beaudet Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 Nat Genet 4 3 1993 (Jul) 221 226
-
(1993)
Nat Genet
, vol.4
, Issue.3
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
-
26
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
S.M. Pulst, A. Nechiporuk, T. Nechiporuk, S. Gispert, X.N. Chen, and I. Lopes-Cendes Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 Nat Genet 14 1996 269 276
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
Gispert, S.4
Chen, X.N.5
Lopes-Cendes, I.6
-
27
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Y. Kawaguchi, T. Okamoto, M. Taniwaki, M. Aizawa, M. Inoue, and S. Katayama CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 Nat Genet 8 3 1994 (Nov) 221 228
-
(1994)
Nat Genet
, vol.8
, Issue.3
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
-
28
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
O. Zhuchenko, J. Bailey, P. Bonnen, T. Ashizawa, D.W. Stockton, and C. Amos Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel Nat Genet 15 1 1997 (Jan) 62 69
-
(1997)
Nat Genet
, vol.15
, Issue.1
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
-
29
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
M.D. Koob, M.L. Moseley, L.J. Schut, K.A. Benzow, T.D. Bird, and J.W. Day An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet 21 1999 379 384
-
(1999)
Nat Genet
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
Benzow, K.A.4
Bird, T.D.5
Day, J.W.6
-
30
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
W.T. Brown, G.E. Houck Jr., A. Jeziorowska, F.N. Levinson, X. Ding, and C. Dobkin Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test JAMA 270 1993 1569 1575
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck Jr., G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
-
31
-
-
0037385006
-
Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
D.H. Chen, Z. Brkanac, C.L. Verlinde, X.J. Tan, L. Bylenok, and D. Nochlin Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia Am J Hum Genet 72 4 2003 839 849
-
(2003)
Am J Hum Genet
, vol.72
, Issue.4
, pp. 839-849
-
-
Chen, D.H.1
Brkanac, Z.2
Verlinde, C.L.3
Tan, X.J.4
Bylenok, L.5
Nochlin, D.6
-
32
-
-
3042595333
-
Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia
-
Y. Ikeda, J.C. Dalton, M.L. Moseley, K.L. Gardner, T.D. Bird, and T. Ashizawa Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia Am J Hum Genet 75 1 2004 3 16
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 3-16
-
-
Ikeda, Y.1
Dalton, J.C.2
Moseley, M.L.3
Gardner, K.L.4
Bird, T.D.5
Ashizawa, T.6
-
33
-
-
3442875652
-
Population based study of late onset cerebellar ataxia in south east Wales
-
M.B. Muzaimi, J. Thomas, S. Palmer-Smith, L. Rosser, P.S. Harper, and C.M. Wiles Population based study of late onset cerebellar ataxia in south east Wales J Neurol Neurosurg Psychiatry 75 8 2004 1129 1134
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, Issue.8
, pp. 1129-1134
-
-
Muzaimi, M.B.1
Thomas, J.2
Palmer-Smith, S.3
Rosser, L.4
Harper, P.S.5
Wiles, C.M.6
-
34
-
-
0033837087
-
Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy
-
S. Gilman, R. Little, J. Johanns, M. Heumann, K.J. Kluin, and L. Junck Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy Neurology 55 4 2000 527 532
-
(2000)
Neurology
, vol.55
, Issue.4
, pp. 527-532
-
-
Gilman, S.1
Little, R.2
Johanns, J.3
Heumann, M.4
Kluin, K.J.5
Junck, L.6
-
35
-
-
0042512366
-
Progressive supranuclear palsy: Where are we now?
-
D.J. Burn, and A.J. Lees Progressive supranuclear palsy: where are we now? Lancet Neurol 1 6 2002 359 369
-
(2002)
Lancet Neurol
, vol.1
, Issue.6
, pp. 359-369
-
-
Burn, D.J.1
Lees, A.J.2
-
36
-
-
0028780651
-
Antineuronal antibody in Sjogren's syndrome masquerading as paraneoplastic cerebellar degeneration
-
Y. Terao, K. Sakai, S. Kato, H. Tanabe, K. Ishida, and T. Tsukamoto Antineuronal antibody in Sjogren's syndrome masquerading as paraneoplastic cerebellar degeneration Lancet 343 8900 1994 790
-
(1994)
Lancet
, vol.343
, Issue.8900
, pp. 790
-
-
Terao, Y.1
Sakai, K.2
Kato, S.3
Tanabe, H.4
Ishida, K.5
Tsukamoto, T.6
-
37
-
-
0027321562
-
Purkinje cell antibody in lupus ataxia
-
T. Shimomura, N. Kuno, T. Takenaka, M. Maeda, and K. Takahashi Purkinje cell antibody in lupus ataxia Lancet 342 8867 1993 375 376
-
(1993)
Lancet
, vol.342
, Issue.8867
, pp. 375-376
-
-
Shimomura, T.1
Kuno, N.2
Takenaka, T.3
Maeda, M.4
Takahashi, K.5
-
38
-
-
0035112661
-
Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: Study of 14 patients
-
J. Honnorat, A. Saiz, B. Giometto, A. Vincent, L. Brieva, and C. de Andres Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients Arch Neurol 58 2 2001 (Feb) 225 230
-
(2001)
Arch Neurol
, vol.58
, Issue.2
, pp. 225-230
-
-
Honnorat, J.1
Saiz, A.2
Giometto, B.3
Vincent, A.4
Brieva, L.5
De Andres, C.6
-
39
-
-
0031661913
-
Oculomotor phenotypes in autosomal dominant ataxias
-
N. Buttner, D. Geschwind, J.C. Jen, S. Perlman, S.M. Pulst, and R.W. Baloh Oculomotor phenotypes in autosomal dominant ataxias Arch Neurol 55 10 1998 1353 1357
-
(1998)
Arch Neurol
, vol.55
, Issue.10
, pp. 1353-1357
-
-
Buttner, N.1
Geschwind, D.2
Jen, J.C.3
Perlman, S.4
Pulst, S.M.5
Baloh, R.W.6
-
40
-
-
0032835166
-
Autosomal dominant cerebellar ataxia type 1: Oculomotor abnormalities in families with SCA1, SCA2 and SCA3
-
K. Burk, M. Fetter, M. Abele, F. Laccone, A. Brice, and J. Dichgans Autosomal dominant cerebellar ataxia type 1: oculomotor abnormalities in families with SCA1, SCA2 and SCA3 J Neurol 246 1999 789 797
-
(1999)
J Neurol
, vol.246
, pp. 789-797
-
-
Burk, K.1
Fetter, M.2
Abele, M.3
Laccone, F.4
Brice, A.5
Dichgans, J.6
-
41
-
-
0742305833
-
Cerebellar ataxia with bilateral vestibulopathy: Description of a syndrome and its characteristic clinical sign
-
A.A. Migliaccio, G.M. Halmagyi, L.A. McGarvie, and P.D. Cremer Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign Brain 127 Pt 2 2004 280 293
-
(2004)
Brain
, vol.127
, Issue.2 PART
, pp. 280-293
-
-
Migliaccio, A.A.1
Halmagyi, G.M.2
McGarvie, L.A.3
Cremer, P.D.4
-
42
-
-
0027518216
-
The effect of aging on visual-vestibuloocular responses
-
R.W. Baloh, K.M. Jacobson, and T.M. Socotch The effect of aging on visual-vestibuloocular responses Exp Brain Res 95 3 1993 509 516
-
(1993)
Exp Brain Res
, vol.95
, Issue.3
, pp. 509-516
-
-
Baloh, R.W.1
Jacobson, K.M.2
Socotch, T.M.3
|