-
1
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
L Schols P Bauer T Schmidt T Schulte O Riess 2004 Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis Lancet Neurol 3 291 304
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
4
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
G Imbert F Saudou G Yvert D Devys Y Trottier JM Garnier 1996 Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats Nature Genet 14 285 291
-
(1996)
Nature Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
-
5
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
K Sanpei H Takano S Igarashi T Sato M Oyake H Sasaki 1996 Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT Nature Genet 14 277 284
-
(1996)
Nature Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
-
7
-
-
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 DW Stockton C Amos 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel Nature Genet 15 62 69
-
(1997)
Nature Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
-
10
-
-
6844239536
-
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
-
J Del-Favero L Krols A Michalik J Theuns A Löfgren D Goossens 1998 Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion Hum Mol Genet 7 177 186
-
(1998)
Hum Mol Genet
, vol.7
, pp. 177-186
-
-
Del-Favero, J.1
Krols, L.2
Michalik, A.3
Theuns, J.4
Löfgren, A.5
Goossens, D.6
-
11
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATAbinding protein gene: A new polyglutamine disease?
-
R Koide S Kobayashi T Shimohata T Ikeuchi M Maruyama M Saito 1999 A neurological disease caused by an expanded CAG trinucleotide repeat in the TATAbinding protein gene: a new polyglutamine disease? Hum Mol Genet 8 2047 2053
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
Saito, M.6
-
12
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral- pallidoluysian atrophy (DRPLA)
-
R Koide T Ikeuchi O Onodera H Tanaka S Igarashi K Endo 1994 Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) Nat Genet 6 9 13
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
-
13
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
S Nagafuchi H Yanagisawa K Sato T Shirayama E Ohsaki M Bundo 1994 Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p Nat Genet 6 14 18
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
-
15
-
-
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 C Michielotto 2004 Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families Arch Neurol 61 727 733
-
(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
-
19
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
-
JC van Swieten E Brusse BM de Graaf E Krieger GR van de KI de 2003 A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected] Am J Hum Genet 72 191 199
-
(2003)
Am J Hum Genet
, vol.72
, pp. 191-199
-
-
Van Swieten, J.C.1
Brusse, E.2
De Graaf, B.M.3
Krieger, E.4
Van De, G.R.5
De, K.I.6
-
20
-
-
12744261497
-
Mutation analysis in the fibroblast growth factor 14 gene: Frameshift mutation and polymorphisms in patients with inherited ataxias
-
A Dalski J Atici FR Kreuz Y Hellenbroich E Schwinger C Zuhlke 2005 Mutation analysis in the fibroblast growth factor 14 gene: Frameshift mutation and polymorphisms in patients with inherited ataxias Eur J Hum Genet 13 118 120
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 118-120
-
-
Dalski, A.1
Atici, J.2
Kreuz, F.R.3
Hellenbroich, Y.4
Schwinger, E.5
Zuhlke, C.6
-
21
-
-
0037385006
-
Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
DH Chen Z Brkanac CL Verlinde XJ Tan L Bylenok D Nochlin 2003 Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia Am J Hum Genet 72 839 849
-
(2003)
Am J Hum Genet
, vol.72
, pp. 839-849
-
-
Chen, D.H.1
Brkanac, Z.2
Verlinde, C.L.3
Tan, X.J.4
Bylenok, L.5
Nochlin, D.6
-
22
-
-
4043178555
-
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
-
G Stevanin V Hahn E Lohmann N Bouslam M Gouttard C Soumphonphakdy 2004 Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14 Arch Neurol 61 1242 1248
-
(2004)
Arch Neurol
, vol.61
, pp. 1242-1248
-
-
Stevanin, G.1
Hahn, V.2
Lohmann, E.3
Bouslam, N.4
Gouttard, M.5
Soumphonphakdy, C.6
-
25
-
-
13544251405
-
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting
-
DS Verbeek MA Knight GG Harmison KH Fischbeck BW Howell 2005 Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting Brain 128 436 442
-
(2005)
Brain
, vol.128
, pp. 436-442
-
-
Verbeek, D.S.1
Knight, M.A.2
Harmison, G.G.3
Fischbeck, K.H.4
Howell, B.W.5
-
27
-
-
27644586218
-
New mutations of protein kinase C gamma associated with spinocerebellar ataxia type 14 (SCA14)
-
S Klebe A Durr A Rentschler V Hahn-Barma M Abele N Bouslam 2005 New mutations of protein kinase C gamma associated with spinocerebellar ataxia type 14 (SCA14) Ann Neurol 58 720 729
-
(2005)
Ann Neurol
, vol.58
, pp. 720-729
-
-
Klebe, S.1
Durr, A.2
Rentschler, A.3
Hahn-Barma, V.4
Abele, M.5
Bouslam, N.6
-
28
-
-
23844524453
-
Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregate and cause cell death
-
T Seki N Adachi Y Ono H Mochizuki K Hiramoto T Amano 2005 Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregate and cause cell death J Biol Chem 280 29096 29106
-
(2005)
J Biol Chem
, vol.280
, pp. 29096-29106
-
-
Seki, T.1
Adachi, N.2
Ono, Y.3
Mochizuki, H.4
Hiramoto, K.5
Amano, T.6
-
30
-
-
33645421783
-
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
-
MF Waters NA Minassian G Stevanin KP Figueroa JP Bannister D Nolte 2006 Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes Nature Genet 38 447 451
-
(2006)
Nature Genet
, vol.38
, pp. 447-451
-
-
Waters, M.F.1
Minassian, N.A.2
Stevanin, G.3
Figueroa, K.P.4
Bannister, J.P.5
Nolte, D.6
-
31
-
-
22544448383
-
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a singlenucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and rho Guanine-nucleotide exchange-factor domains
-
K Ishikawa S Toru T Tsunemi M Li K Kobayashi T Yokota 2005 An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a singlenucleotide 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 77 280 296
-
(2005)
Am J Hum Genet
, vol.77
, pp. 280-296
-
-
Ishikawa, K.1
Toru, S.2
Tsunemi, T.3
Li, M.4
Kobayashi, K.5
Yokota, T.6
-
32
-
-
0034094873
-
Glutamine repeats and neurodegeneration
-
HY Zoghbi HT Orr 2000 Glutamine repeats and neurodegeneration Annu Rev Neurosci 23 217 247
-
(2000)
Annu Rev Neurosci
, vol.23
, pp. 217-247
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
33
-
-
0035076389
-
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
-
C Zuhlke Y Hellenbroich A Dalski N Kononowa J Hagenah P Vieregge 2001 Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia Eur J Hum Genet 9 160 164
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 160-164
-
-
Zuhlke, C.1
Hellenbroich, Y.2
Dalski, A.3
Kononowa, N.4
Hagenah, J.5
Vieregge, P.6
-
34
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
K Nakamura SY Jeong T Uchihara M Anno K Nagashima T Nagashima 2001 SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein Hum Mol Genet 10 1441 1448
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
-
35
-
-
0034783914
-
CAG repeat expansion in the TATA boxbinding protein gene causes autosomal dominant cerebellar ataxia
-
H Fujigasaki JJ Martin PP De Deyn A Camuzat D Deffond G Stevanin 2001 CAG repeat expansion in the TATA boxbinding protein gene causes autosomal dominant cerebellar ataxia Brain 124 1939 1947
-
(2001)
Brain
, vol.124
, pp. 1939-1947
-
-
Fujigasaki, H.1
Martin, J.J.2
De Deyn, P.P.3
Camuzat, A.4
Deffond, D.5
Stevanin, G.6
-
36
-
-
0037819516
-
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
-
G Stevanin H Fujigasaki AS Lebre A Camuzat C Jeannequin C Dode 2003 Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes Brain 126 1599 1603
-
(2003)
Brain
, vol.126
, pp. 1599-1603
-
-
Stevanin, G.1
Fujigasaki, H.2
Lebre, A.S.3
Camuzat, A.4
Jeannequin, C.5
Dode, C.6
-
37
-
-
20244380183
-
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases
-
YR Wu HC Fung GJ Lee-Chen K Gwinn-Hardy LS Ro ST Chen 2005 Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases J Neural Transm 112 539 546
-
(2005)
J Neural Transm
, vol.112
, pp. 539-546
-
-
Wu, Y.R.1
Fung, H.C.2
Lee-Chen, G.J.3
Gwinn-Hardy, K.4
Ro, L.S.5
Chen, S.T.6
-
38
-
-
10744232450
-
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
-
M Oda H Maruyama O Komure H Morino H Terasawa Y Izumi 2004 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 61 209 212
-
(2004)
Arch Neurol
, vol.61
, pp. 209-212
-
-
Oda, M.1
Maruyama, H.2
Komure, O.3
Morino, H.4
Terasawa, H.5
Izumi, Y.6
-
39
-
-
0027459028
-
Three in one and one in three: It all depends on TBP
-
PW Rigby 1993 Three in one and one in three: it all depends on TBP Cell 72 7 10
-
(1993)
Cell
, vol.72
, pp. 7-10
-
-
Rigby, P.W.1
-
40
-
-
0028291079
-
The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27
-
G Imbert Y Trottier J Beckmann JL Mandel 1994 The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27 Genomics 21 667 668
-
(1994)
Genomics
, vol.21
, pp. 667-668
-
-
Imbert, G.1
Trottier, Y.2
Beckmann, J.3
Mandel, J.L.4
-
41
-
-
0028178522
-
The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters
-
A Lescure Y Lutz D Eberhard X Jacq A Krol I Grummt 1994 The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters EMBO J 13 1166 1175
-
(1994)
EMBO J
, vol.13
, pp. 1166-1175
-
-
Lescure, A.1
Lutz, Y.2
Eberhard, D.3
Jacq, X.4
Krol, A.5
Grummt, I.6
-
43
-
-
0027445452
-
'Cryptic' repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: Analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes
-
B Gostout Q Liu SS Sommer 1993 'Cryptic' repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: Analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes Am J Hum Genet 52 1182 1190
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1182-1190
-
-
Gostout, B.1
Liu, Q.2
Sommer, S.S.3
-
45
-
-
0029744077
-
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder
-
DC Rubinsztein J Leggo TJ Crow LE DeLisi C Walsh S Jain 1996 Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder Am J Med Genet 67 495 498
-
(1996)
Am J Med Genet
, vol.67
, pp. 495-498
-
-
Rubinsztein, D.C.1
Leggo, J.2
Crow, T.J.3
Delisi, L.E.4
Walsh, C.5
Jain, S.6
-
48
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
A Rolfs AH Koeppen I Bauer P Bauer S Buhlmann H Topka 2003 Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) Ann Neurol 54 367 375
-
(2003)
Ann Neurol
, vol.54
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
Bauer, P.4
Buhlmann, S.5
Topka, H.6
-
49
-
-
12144286184
-
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype
-
P Bauer F Laccone A Rolfs U Wullner S Bosch H Peters 2004 Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype J Med Genet 41 230 232
-
(2004)
J Med Genet
, vol.41
, pp. 230-232
-
-
Bauer, P.1
Laccone, F.2
Rolfs, A.3
Wullner, U.4
Bosch, S.5
Peters, H.6
-
51
-
-
10744231577
-
Genetic testing in spinocerebellar ataxia in Taiwan: Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease
-
YR Wu HY Lin CM Chen K Gwinn-Hardy LS Ro YC Wang 2004 Genetic testing in spinocerebellar ataxia in Taiwan: Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease Clin Genet 65 209 214
-
(2004)
Clin Genet
, vol.65
, pp. 209-214
-
-
Wu, Y.R.1
Lin, H.Y.2
Chen, C.M.3
Gwinn-Hardy, K.4
Ro, L.S.5
Wang, Y.C.6
-
52
-
-
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
-
C Zuhlke A Dalski E Schwinger U Finckh 2005 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 27
-
(2005)
BMC Med Genet
, vol.6
, pp. 27
-
-
Zuhlke, C.1
Dalski, A.2
Schwinger, E.3
Finckh, U.4
-
53
-
-
0142248484
-
Dementia, ataxia, extrapyramidal features, and epilepsy: Phenotype spectrum in two Italian families with spinocerebellar ataxia type 17
-
G De Michele F Maltecca M Carella G Volpe M Orio A De Falco 2003 Dementia, ataxia, extrapyramidal features, and epilepsy: Phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 Neurol Sci 24 166 167
-
(2003)
Neurol Sci
, vol.24
, pp. 166-167
-
-
De Michele, G.1
Maltecca, F.2
Carella, M.3
Volpe, G.4
Orio, M.5
De Falco, A.6
-
54
-
-
0037321835
-
Phenotypical variability of expanded alleles in the TATAbinding protein gene. Reduced penetrance in SCA17?
-
C Zuhlke U Gehlken Y Hellenbroich E Schwinger K Burk 2003 Phenotypical variability of expanded alleles in the TATAbinding protein gene. Reduced penetrance in SCA17? J Neurol 250 161 163
-
(2003)
J Neurol
, vol.250
, pp. 161-163
-
-
Zuhlke, C.1
Gehlken, U.2
Hellenbroich, Y.3
Schwinger, E.4
Burk, K.5
-
57
-
-
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
-
A Shatunov EA Fridman FI Pagan J Leib A Singleton M Hallett 2004 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 66 496 501
-
(2004)
Clin Genet
, vol.66
, pp. 496-501
-
-
Shatunov, A.1
Fridman, E.A.2
Pagan, F.I.3
Leib, J.4
Singleton, A.5
Hallett, M.6
-
58
-
-
4043175666
-
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
-
AC Bruni J Takahashi-Fujigasaki F Maltecca JF Foncin A Servadio G Casari 2004 Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation Arch Neurol 61 1314 1320
-
(2004)
Arch Neurol
, vol.61
, pp. 1314-1320
-
-
Bruni, A.C.1
Takahashi-Fujigasaki, J.2
Maltecca, F.3
Foncin, J.F.4
Servadio, A.5
Casari, G.6
-
61
-
-
17844404576
-
Postzygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: Evidence from an Indian family
-
U Mittal S Roy S Jain AK Srivastava M Mukerji 2005 Postzygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: Evidence from an Indian family J Hum Genet 50 155 157
-
(2005)
J Hum Genet
, vol.50
, pp. 155-157
-
-
Mittal, U.1
Roy, S.2
Jain, S.3
Srivastava, A.K.4
Mukerji, M.5
-
62
-
-
0004799163
-
Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and de novo mutation
-
P Giunti G Stevanin P Worth G David A Brice NW Wood 1999 Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation Am J Hum Genet 64 1594 1603
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1594-1603
-
-
Giunti, P.1
Stevanin, G.2
Worth, P.3
David, G.4
Brice, A.5
Wood, N.W.6
-
63
-
-
0032569915
-
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls
-
M Shizuka M Watanabe Y Ikeda K Mizushima K Okamoto M Shoji 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls J Neurol Sci 161 85 87
-
(1998)
J Neurol Sci
, vol.161
, pp. 85-87
-
-
Shizuka, M.1
Watanabe, M.2
Ikeda, Y.3
Mizushima, K.4
Okamoto, K.5
Shoji, M.6
-
64
-
-
0034665029
-
De novo expansion of a CAG repeat in a japanese patient with sporadic Huntington's disease
-
M Watanabe A Satoh M Kanemoto N Ohkoshi S Shoji 2000 De novo expansion of a CAG repeat in a japanese patient with sporadic Huntington's disease J Neurol Sci 178 159 162
-
(2000)
J Neurol Sci
, vol.178
, pp. 159-162
-
-
Watanabe, M.1
Satoh, A.2
Kanemoto, M.3
Ohkoshi, N.4
Shoji, S.5
-
66
-
-
4344635593
-
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7
-
P Bauer J Kraus V Matoska M Brouckova A Zumrova P Goetz 2004 Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7 J Neurol 251 1023 1024
-
(2004)
J Neurol
, vol.251
, pp. 1023-1024
-
-
Bauer, P.1
Kraus, J.2
Matoska, V.3
Brouckova, M.4
Zumrova, A.5
Goetz, P.6
-
67
-
-
0037043031
-
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients
-
H Maruyama Y Izumi H Morino M Oda H Toji S Nakamura 2002 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 114 578 583
-
(2002)
Am J Med Genet
, vol.114
, pp. 578-583
-
-
Maruyama, H.1
Izumi, Y.2
Morino, H.3
Oda, M.4
Toji, H.5
Nakamura, S.6
-
72
-
-
77952878970
-
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype
-
MC Costa A Teixeira-Castro M Constante M Magalhaes P Magalhaes J Cerqueira 2006 Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype J Hum Genet 51 645 651
-
(2006)
J Hum Genet
, vol.51
, pp. 645-651
-
-
Costa, M.C.1
Teixeira-Castro, A.2
Constante, M.3
Magalhaes, M.4
Magalhaes, P.5
Cerqueira, J.6
-
73
-
-
21644486998
-
FXTAS, SCA10, and SCA17 in American patients with movement disorders
-
AI Seixas MH Maurer M Lin C Callahan A Ahuja T Matsuura 2005 FXTAS, SCA10, and SCA17 in American patients with movement disorders Am J Med Genet A 136A 87 89
-
(2005)
Am J Med Genet A
, vol.136
, pp. 87-89
-
-
Seixas, A.I.1
Maurer, M.H.2
Lin, M.3
Callahan, C.4
Ahuja, A.5
Matsuura, T.6
-
74
-
-
0037177106
-
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy
-
A Filla G De Michele S Cocozza A Patrignani G Volpe I Castaldo 2002 Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy Neurology 58 922 928
-
(2002)
Neurology
, vol.58
, pp. 922-928
-
-
Filla, A.1
De Michele, G.2
Cocozza, S.3
Patrignani, A.4
Volpe, G.5
Castaldo, I.6
-
76
-
-
24344455537
-
Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia
-
CM Chen HY Lane YR Wu LS Ro FL Chen WL Hung 2005 Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia Schizophr Res 78 131 136
-
(2005)
Schizophr Res
, vol.78
, pp. 131-136
-
-
Chen, C.M.1
Lane, H.Y.2
Wu, Y.R.3
Ro, L.S.4
Chen, F.L.5
Hung, W.L.6
-
79
-
-
30444440181
-
Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
-
CT Loy MG Sweeney MB Davis AJ Wills GV Sawle AJ Lees 2005 Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging Mov Disord 20 1521 1523
-
(2005)
Mov Disord
, vol.20
, pp. 1521-1523
-
-
Loy, C.T.1
Sweeney, M.G.2
Davis, M.B.3
Wills, A.J.4
Sawle, G.V.5
Lees, A.J.6
-
81
-
-
0343820077
-
Clinical and molecular advances in autosomal dominant cerebellar ataxias: From genotype to phenotype and physiopathology
-
G Stevanin A Durr A Brice 2000 Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology Eur J Hum Genet 8 4 18
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 4-18
-
-
Stevanin, G.1
Durr, A.2
Brice, A.3
-
84
-
-
0031442152
-
Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population
-
T Ikeuchi H Takano R Koide Y Horikawa Y Honma Y Onishi 1997 Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population Ann Neurol 42 879 884
-
(1997)
Ann Neurol
, vol.42
, pp. 879-884
-
-
Ikeuchi, T.1
Takano, H.2
Koide, R.3
Horikawa, Y.4
Honma, Y.5
Onishi, Y.6
-
86
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Y Trottier Y Lutz G Stevanin G Imbert D Devys G Cancel 1995 Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias Nature 378 403 406
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
Cancel, G.6
-
87
-
-
0036829688
-
RNA polymerase II transcription in murine cells lacking the TATA binding protein
-
I Martianov S Viville I Davidson 2002 RNA polymerase II transcription in murine cells lacking the TATA binding protein Science 298 1036 1039
-
(2002)
Science
, vol.298
, pp. 1036-1039
-
-
Martianov, I.1
Viville, S.2
Davidson, I.3
-
88
-
-
0034887539
-
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias - Triple-labeling immunofluorescence study
-
T Uchihara H Fujigasaki S Koyano A Nakamura S Yagishita K Iwabuchi 2001 Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias - triple-labeling immunofluorescence study Acta Neuropathol (Berl) 102 149 152
-
(2001)
Acta Neuropathol (Berl)
, vol.102
, pp. 149-152
-
-
Uchihara, T.1
Fujigasaki, H.2
Koyano, S.3
Nakamura, A.4
Yagishita, S.5
Iwabuchi, K.6
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