Complex phenotypes in an Indian family with homozygous SCA2 mutations.
about
Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell deathPolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeatsATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasmsRepeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG RepeatPsychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2.Movement disorders in spinocerebellar ataxias.Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS.Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process.Evaluation of Various Movement Disorders in Patients of Genetically Proven Spinocerebellar Ataxia: A Study from a Tertiary Care Center in Northern India.
P2860
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P2860
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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name
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
@en
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
@nl
type
label
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
@en
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
@nl
prefLabel
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
@en
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
@nl
P2093
P2860
P356
P1433
P1476
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
@en
P2093
B K Thelma
Mona Ragothaman
Nagaraja Sarangmath
Ramesh C Juyal
Sangeeta Sharma
Shashi Chaudhary
Sreelatha Komatireddy
Subhabrata Chakrabarti
Uday B Muthane
Uma Mittal
P2860
P304
P356
10.1002/ANA.10815
P577
2004-01-01T00:00:00Z