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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2011-9-13
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pubmed:abstractText |
To provide clinical data on a cohort of 6 patients with massive expansion (>200 CAG repeats) of spinocerebellar ataxia type 2 (SCA2) and investigate possible pathways of pathogenesis using bioinformatics analysis of ATXN2 networks.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
13
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pubmed:volume |
77
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1055-60
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pubmed:meshHeading |
pubmed-meshheading:21880993-Autonomic Nervous System Diseases,
pubmed-meshheading:21880993-Child, Preschool,
pubmed-meshheading:21880993-Fatal Outcome,
pubmed-meshheading:21880993-Female,
pubmed-meshheading:21880993-Humans,
pubmed-meshheading:21880993-Infant,
pubmed-meshheading:21880993-Male,
pubmed-meshheading:21880993-Nerve Tissue Proteins,
pubmed-meshheading:21880993-Phenotype,
pubmed-meshheading:21880993-Post-Synaptic Density,
pubmed-meshheading:21880993-Retinitis Pigmentosa,
pubmed-meshheading:21880993-Retrospective Studies,
pubmed-meshheading:21880993-Severity of Illness Index,
pubmed-meshheading:21880993-Spasms, Infantile,
pubmed-meshheading:21880993-Trinucleotide Repeat Expansion
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pubmed:year |
2011
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pubmed:articleTitle |
Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.
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pubmed:affiliation |
Department of Neurology, Washington University, St. Louis, MO, USA. arpac@u.washington.edu
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, N.I.H., Extramural
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