A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

BACKGROUND: Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of HTRA2 p.G399S, and ANO3 p. W490C...

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Detalhes bibliográficos
Publicado no:BMC Neurol
Main Authors: Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5120508/
https://ncbi.nlm.nih.gov/pubmed/27881096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0748-3
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