Titre :
  • The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Auteur : Lee, Hsien-Yang ; Xu, Yi ; Huang, Yongxiang ; Ahn, Andrew H ; Auburger, Georg W J ; Pandolfo, Massimo ; Kwiecinski, H ; Grimes, David A ; Lang, Anthony E ; Nielsen, Jorgen E ; Averyanov, Yuri ; Servidei, Serenella ; Friedman, Andrzej ; Van Bogaert, Patrick ; Abramowicz, Marc ; Bruno, Marco ; Sorensen, Beatrice F ; Tang, Ling ; Fu, Ying-Hui ; Ptácek, Louis J
Informations sur la publication : Human molecular genetics, 13, 24, (page 3161-3170)
Statut de publication : Publié, 2004-12
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Animals
Central Nervous System -- metabolism
Chorea -- genetics
Chorea -- metabolism
Chromosome Mapping
Female
Humans
In Situ Hybridization
Male
Mice
Muscle Proteins -- genetics
Muscle Proteins -- metabolism
Mutation
Pedigree
Protein Isoforms -- genetics
Protein Isoforms -- metabolism
Sequence Analysis, DNA
Stress, Physiological -- enzymology
Stress, Physiological -- genetics
Note : Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langue :
  • Anglais
Identificateurs : urn:issn:0964-6906 
info:doi/10.1093/hmg/ddh330
info:pii/ddh330
info:pmid/15496428