Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases

An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years. In previous work, we screened 1,114 subjects with mainly adult-onset primary dystonia (Neurology 2010;74:229-238) and identified 6 mi...

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Détails bibliographiques
Auteurs principaux: LeDoux, Mark S., Xiao, Jianfeng, Rudzińska, Monika, Bastian, Robert W., Wszolek, Zbigniew K., Van Gerpen, Jay A., Puschmann, Andreas, Momčilović, Dragana, Vemula, Satya R., Zhao, Yu
Format: Artigo
Langue:Inglês
Publié: 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3358360/
https://ncbi.nlm.nih.gov/pubmed/22377579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2012.02.001
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