Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsSpinocerebellar 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.Parkinsonism in spinocerebellar ataxiaPolyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicityRole of high mobility group box 1 (HMGB1) in SCA17 pathogenesisHigh frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.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.Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.Role of the CCAAT-binding protein NFY in SCA17 pathogenesisAutosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case reportIndole and synthetic derivative activate chaperone expression to reduce polyQ aggregation in SCA17 neuronal cell and slice culture models.EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Neurological proteins are not enriched for repetitive sequences.Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.Clinical heterogeneity of recessive ataxia in the Mexican populationMachado-Joseph disease/spinocerebellar ataxia type 3.PolyQ 2.0: an improved version of PolyQ, a database of human polyglutamine proteinsGenetic and molecular aspects of spinocerebellar ataxias.Spinocerebellar ataxia type 23: a genetic update.Ophthalmologic abnormalities in a de novo terminal 6q deletion.Hereditary ataxias: overview.Critical evaluation of in silico methods for prediction of coiled-coil domains in proteins.Genetically modified rodent models of SCA17.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Expansion of the polyQ repeats in THAP11 forms intranuclear aggregation and causes cell G0/G1 arrest.A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene.Low predisposition to instability of the Friedreich ataxia gene in Cuban population.Simple sequence in brain and nervous system specific proteins.Genotyping and prenatal diagnosis of a large spinocerebellar ataxia pedigree in northeastern China.A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature.Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient.Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population.Exploration of CAG triplet repeat in nontranslated region of SCA12 gene.Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.
P2860
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P2860
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh
2002年學術文章
@zh-hant
name
Trinucleotide repeats in 202 f ...... G)n allele at the SCA17 locus.
@en
Trinucleotide repeats in 202 families with ataxia: a small expanded
@nl
type
label
Trinucleotide repeats in 202 f ...... G)n allele at the SCA17 locus.
@en
Trinucleotide repeats in 202 families with ataxia: a small expanded
@nl
prefLabel
Trinucleotide repeats in 202 f ...... G)n allele at the SCA17 locus.
@en
Trinucleotide repeats in 202 families with ataxia: a small expanded
@nl
P2093
P1433
P1476
Trinucleotide repeats in 202 f ...... AG)n allele at the SCA17 locus
@en
P2093
C Januário
E Parreira
F Ferreirinha
I Silveira
P304
P356
10.1001/ARCHNEUR.59.4.623
P50
P577
2002-04-01T00:00:00Z