Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
about
Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).Ataxin-2: From RNA Control to Human Health and DiseaseAdvances ofcapillary electrophoresis in clinical and forensic analysis (1999-2000).Ataxin-2 repeat-length variation and neurodegenerationIntermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future.Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG RepeatThe roles of proteolysis and nuclear localisation in the toxicity of the polyglutamine diseases. A review.De novo mutations in ataxin-2 gene and ALS risk.Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.ATXN2 trinucleotide repeat length correlates with risk of ALS.Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.Effects of the enlargement of polyglutamine segments on the structure and folding of ataxin-2 and ataxin-3 proteins.Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.Complex phenotypes in an Indian family with homozygous SCA2 mutations.Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)Voxel-based meta-analysis of gray and white matter volume abnormalities in spinocerebellar ataxia type 2
P2860
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P2860
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
@en
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
@nl
type
label
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
@en
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
@nl
prefLabel
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
@en
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
@nl
P2093
P356
P1433
P1476
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
@en
P2093
Fernandez M
La Spada AR
Martinez RA
McClain ME
P304
P356
10.1212/WNL.55.4.569
P407
P577
2000-08-01T00:00:00Z