Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis, The Lancet Neurology, vol.3, issue.5, pp.291-304, 2004. ,
DOI : 10.1016/S1474-4422(04)00737-9
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1, Nature Genetics, vol.244, issue.3, pp.221-226, 1993. ,
DOI : 10.1038/359794a0
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats, Nature Genetics, vol.44, issue.3, pp.285-291, 1996. ,
DOI : 10.1006/dbio.1995.1226
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT, Nature Genetics, vol.4, issue.3, pp.277-284, 1996. ,
DOI : 10.1038/ng0695-213
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1, Nature Genetics, vol.21, issue.3, pp.221-227, 1994. ,
DOI : 10.1016/0092-8674(92)90082-N
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the ??1A-voltage-dependent calcium channel, Nature Genetics, vol.25, issue.1, pp.62-69, 1997. ,
DOI : 10.1038/ng0197-62
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion, Nature Genetics, vol.81, issue.1, pp.65-70, 1997. ,
DOI : 10.1016/0896-6273(95)90138-8
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA, Nature Genetics, vol.17, issue.1, pp.72-75, 1998. ,
DOI : 10.1038/ng0198-72
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion, Human Molecular Genetics, vol.7, issue.2, pp.177-186, 1998. ,
DOI : 10.1093/hmg/7.2.177
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? [In Process Citation], Human Molecular Genetics, vol.8, issue.11, pp.2047-2053, 1999. ,
DOI : 10.1093/hmg/8.11.2047
Unstable expansion of CAG repeat in hereditary dentatorubral???pallidoluysian atrophy (DRPLA), Nature Genetics, vol.4, issue.1, pp.9-13, 1994. ,
DOI : 10.1038/ng0893-398
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p, Nature Genetics, vol.7, issue.1, p.12 ,
DOI : 10.1016/0378-1119(92)90514-P
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias, Human Molecular Genetics, vol.5, issue.12, pp.1887-1892, 1996. ,
DOI : 10.1093/hmg/5.12.1887
Molecular Genetics of Hereditary Spinocerebellar Ataxia, Archives of Neurology, vol.61, issue.5, pp.727-733, 2004. ,
DOI : 10.1001/archneur.61.5.727
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8), Nature Genetics, vol.21, issue.4, pp.379-384, 1999. ,
DOI : 10.1038/7710
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10, Nature Genetics, vol.46, issue.2, pp.191-194, 2000. ,
DOI : 10.1093/hmg/6.11.1855
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12, Nat Genet, vol.23, pp.391-392, 1999. ,
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia, The American Journal of Human Genetics, vol.72, issue.1, pp.191-199, 2003. ,
DOI : 10.1086/345488
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias, European Journal of Human Genetics, vol.13, issue.1, pp.118-120, 2005. ,
DOI : 10.1038/sj.ejhg.5201286
Missense Mutations in the Regulatory Domain of PKC??: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia, The American Journal of Human Genetics, vol.72, issue.4, pp.839-849, 2003. ,
DOI : 10.1086/373883
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14, Arch Neurol, vol.61, pp.1242-1248, 2004. ,
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family, Neurology, vol.61, issue.12, pp.1760-1765, 2003. ,
DOI : 10.1212/01.WNL.0000098883.79421.73
Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C ??, Archives of Neurology, vol.60, issue.12, pp.1749-1751, 2003. ,
DOI : 10.1001/archneur.60.12.1749
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting, Brain, vol.128, issue.2, pp.436-442, 2005. ,
DOI : 10.1093/brain/awh378
The clinical and genetic spectrum of spinocerebellar ataxia 14, Neurology, vol.64, issue.7, pp.1258-1260, 2005. ,
DOI : 10.1212/01.WNL.0000156801.64549.6B
New mutations of Protein Kinase Cã associated with Spinocerebellar Ataxia Type 14 (SCA14), Ann Neurol, 2005. ,
Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregate and cause cell death, J Biol Chem, 2005. ,
Spectrin mutations cause spinocerebellar ataxia type 5, Nature Genetics, vol.86, issue.2, pp.184-190, 2006. ,
DOI : 10.1038/ng1728
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes, Nature Genetics, vol.273, issue.4, pp.447-451, 2006. ,
DOI : 10.1038/ng1758
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, The American Journal of Human Genetics, vol.77, issue.2, pp.280-296, 2005. ,
DOI : 10.1086/432518
Glutamine Repeats and Neurodegeneration, Annual Review of Neuroscience, vol.23, issue.1, pp.217-247, 2000. ,
DOI : 10.1146/annurev.neuro.23.1.217
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia, European Journal of Human Genetics, vol.9, issue.3, pp.160-164, 2001. ,
DOI : 10.1038/sj.ejhg.5200617
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein, Human Molecular Genetics, vol.10, issue.14, pp.1441-1448, 2001. ,
DOI : 10.1093/hmg/10.14.1441
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia, Brain, vol.124, issue.10, pp.1939-1947, 2001. ,
DOI : 10.1093/brain/124.10.1939
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes, Brain, vol.126, issue.7, pp.1599-1603, 2003. ,
DOI : 10.1093/brain/awg155
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases, Journal of Neural Transmission, vol.112, issue.4, pp.539-546, 2005. ,
DOI : 10.1007/s00702-004-0197-9
Possible Reduced Penetrance of Expansion of 44 to 47 CAG/CAA Repeats in the TATA-Binding Protein Gene in Spinocerebellar Ataxia Type 17, Archives of Neurology, vol.61, issue.2, pp.209-212, 2004. ,
DOI : 10.1001/archneur.61.2.209
Three in one and one in three: It all depends on TBP, Cell, vol.72, issue.1, pp.7-10, 1993. ,
DOI : 10.1016/0092-8674(93)90042-O
The Gene for the TATA Binding Protein (TBP) That Contains a Highly Polymorphic Protein Coding CAG Repeat Maps to 6q27, Genomics, vol.21, issue.3, pp.667-668, 1994. ,
DOI : 10.1006/geno.1994.1335
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, vol.13, pp.1166-1175, 1994. ,
Transcriptional activation modulated by homopolymeric glutamine and proline stretches, Science, vol.263, issue.5148, pp.808-811, 1994. ,
DOI : 10.1126/science.8303297
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, vol.52, pp.1182-1190, 1993. ,
Molecular investigation of TBP allele length:, Neurobiology of Disease, vol.13, issue.1, pp.37-45, 2003. ,
DOI : 10.1016/S0969-9961(03)00014-7
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations, pp.7-11 ,
Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia, Annals of Neurology, vol.250, issue.1, pp.163-164, 2004. ,
DOI : 10.1002/ana.20146
Trinucleotide Repeats in 202 Families With Ataxia, Archives of Neurology, vol.59, issue.4, pp.623-629, 2002. ,
DOI : 10.1001/archneur.59.4.623
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17), Annals of Neurology, vol.125, issue.3, pp.367-375, 2003. ,
DOI : 10.1002/ana.10676
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype, Journal of Medical Genetics, vol.41, issue.3, pp.230-232, 2004. ,
DOI : 10.1136/jmg.2003.015602
SCA17 homozygote showing Huntington's disease-like phenotype, Annals of Neurology, vol.65, issue.2, pp.281-286, 2004. ,
DOI : 10.1002/ana.10824
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease, Clinical Genetics, vol.56, issue.3, pp.209-214, 2004. ,
DOI : 10.1111/j.0009-9163.2004.00213.x
Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes, BMC Medical Genetics, vol.55, issue.1, p.27, 2005. ,
DOI : 10.1002/ana.10824
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17, Neurological Sciences, vol.24, issue.3, pp.166-167, 2003. ,
DOI : 10.1007/s10072-003-0112-4
Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?, J Neurol, vol.250, pp.161-163, 2003. ,
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6, European Journal of Human Genetics, vol.11, issue.8, pp.629-632, 2003. ,
DOI : 10.1038/sj.ejhg.5201018
Intergenerational instability and marked anticipation in SCA-17, Neurology, vol.61, issue.10, pp.1441-1443, 2003. ,
DOI : 10.1212/01.WNL.0000094123.09098.A0
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, Clinical Genetics, vol.59, issue.6, pp.496-501, 2004. ,
DOI : 10.1111/j.1399-0004.2004.00356.x
Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation, Archives of Neurology, vol.61, issue.8, pp.1314-1320, 2004. ,
DOI : 10.1001/archneur.61.8.1314
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease, Nature Genetics, vol.17, issue.2, pp.168-173, 1993. ,
DOI : 10.1038/ng1093-168
De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7, Human Molecular Genetics, vol.7, issue.11, pp.1809-1813, 1998. ,
DOI : 10.1093/hmg/7.11.1809
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family, Journal of Human Genetics, vol.4, issue.3, 2005. ,
DOI : 10.1007/s10038-005-0233-0
Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation, The American Journal of Human Genetics, vol.64, issue.6 ,
DOI : 10.1086/302406
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls, Journal of the Neurological Sciences, vol.161, issue.1, pp.85-87, 1998. ,
DOI : 10.1016/S0022-510X(98)00270-6
De novo expansion of a CAG repeat in a Japanese patient with sporadic Huntington???s disease, Journal of the Neurological Sciences, vol.178, issue.2, pp.159-162, 2000. ,
DOI : 10.1016/S0022-510X(00)00368-3
Spinocerebellar Ataxia Type 2, Archives of Neurology, vol.54, issue.9, pp.1073-1080, 1997. ,
DOI : 10.1001/archneur.1997.00550210011007
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7, Journal of Neurology, vol.251, issue.8, pp.1023-1024, 2004. ,
DOI : 10.1007/s00415-004-0482-4
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients, American Journal of Medical Genetics, vol.15, issue.5, pp.578-583, 2002. ,
DOI : 10.1002/ajmg.10514
Focal dystonia as a presenting sign of spinocerebellar ataxia 17, Movement Disorders, vol.8, issue.2, pp.217-220, 2004. ,
DOI : 10.1002/mds.10600
Electrophysiologic characterization in spinocerebellar ataxia 17, Neurology, vol.66, issue.6, pp.932-934, 2006. ,
DOI : 10.1212/01.wnl.0000203514.92781.fd
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England, Journal of the Neurological Sciences, vol.239, issue.1, pp.105-109, 2005. ,
DOI : 10.1016/j.jns.2005.08.009
Spinocerebellar ataxia type 17 in the Yugoslav population, Acta Neurologica Scandinavica, vol.58, issue.3, pp.185-187, 2004. ,
DOI : 10.1086/302067
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, Journal of Human Genetics, vol.63, issue.8, pp.645-651, 2006. ,
DOI : 10.1007/s10038-006-0001-9
FXTAS, SCA10, and SCA17 in American patients with movement disorders, American Journal of Medical Genetics Part A, vol.251, issue.1, pp.87-89, 2005. ,
DOI : 10.1002/ajmg.a.30761
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy, Neurology, vol.58, issue.6, pp.922-928, 2002. ,
DOI : 10.1212/WNL.58.6.922
The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment, Parkinsonism & Related Disorders, vol.13, issue.4, 2006. ,
DOI : 10.1016/j.parkreldis.2006.04.009
Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia, Schizophr Res, 2005. ,
Mutation at the SCA17 locus is not a common cause of parkinsonism, Parkinsonism & Related Disorders, vol.9, issue.6, pp.317-320, 2003. ,
DOI : 10.1016/S1353-8020(03)00027-0
Mutation at the SCA17 locus is not a common cause of primary dystonia, Journal of Neurology, vol.9, issue.10, pp.1232-1234, 2004. ,
DOI : 10.1007/s00415-004-0520-2
Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging, Movement Disorders, vol.65, issue.11, pp.1521-1523, 2005. ,
DOI : 10.1002/mds.20529
Putamen dopamine transporter and glucose metabolism are reduced in SCA17, Annals of Neurology, vol.57, issue.3, pp.490-491, 2005. ,
DOI : 10.1002/ana.20609
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology, European Journal of Human Genetics, vol.8, issue.1, pp.4-18, 2000. ,
DOI : 10.1038/sj.ejhg.5200403
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?, Neurology, vol.45, issue.10, pp.1934-1936, 1995. ,
DOI : 10.1212/WNL.45.10.1934
Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., Journal of Neurology, Neurosurgery & Psychiatry, vol.60, issue.3, pp.354-356, 1996. ,
DOI : 10.1136/jnnp.60.3.354-a
Spinocerebellar ataxia type 6: CAG repeat expansion in ?1a voltage-dependent calcium channel gene and clinical variations in japanese population, Annals of Neurology, vol.72, issue.6, pp.879-884, 1997. ,
DOI : 10.1002/ana.410420609
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course, Brain, vol.126, issue.4, pp.946-955, 2003. ,
DOI : 10.1093/brain/awg077
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias, Nature, vol.378, issue.6555, pp.403-406, 1995. ,
DOI : 10.1038/378403a0
RNA Polymerase II Transcription in Murine Cells Lacking the TATA Binding Protein, Science, vol.298, issue.5595, pp.1036-1039, 2002. ,
DOI : 10.1126/science.1076327
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study, Acta Neuropathol (Berl), vol.102, pp.149-152, 2001. ,
Insoluble TATA-binding protein accumulation in Huntington???s disease cortex, Molecular Brain Research, vol.109, issue.1-2, pp.1-10, 2002. ,
DOI : 10.1016/S0169-328X(02)00450-3
Recruitment and the Role of Nuclear Localization in Polyglutamine-mediated Aggregation, The Journal of Cell Biology, vol.44, issue.6, pp.1457-1470, 1998. ,
DOI : 10.1002/ana.410190207