Adult‐onset leg dystonia due to a missense mutation in THAP1
Identifieur interne : 001E64 ( Main/Exploration ); précédent : 001E63; suivant : 001E65Adult‐onset leg dystonia due to a missense mutation in THAP1
Auteurs : Jay A. Van Gerpen [États-Unis] ; Mark S. Ledoux [États-Unis] ; Zbigniew K. Wszolek [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-07-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Apoptosis Regulatory Proteins (genetics), DNA-Binding Proteins (genetics), Dystonia, Dystonic Disorders (genetics), Dystonic Disorders (pathology), Humans, Leg (physiopathology), Male, Middle Aged, Missense mutation, Mutation, Missense (genetics), Nervous system diseases, Nuclear Proteins (genetics).
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonic Disorders, Mutation, Missense.
- pathology : Dystonic Disorders.
- physiopathology : Leg.
- Humans, Male, Middle Aged.
Url:
- https://api.istex.fr/document/3095CE90DC319D0A4B9EA59FA725CA51933E0E02/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902655
DOI: 10.1002/mds.23086
Affiliations:
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Le document en format XML
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