Mutations in GNAL: A Novel Cause of Craniocervical Dystonia

IMPORTANCE: Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gα(olf)) is important for dopamine D(1) receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, i...

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Publicat a:JAMA Neurol
Autors principals: Kumar, Kishore R., Lohmann, Katja, Masuho, Ikuo, Miyamoto, Ryosuke, Ferbert, Andreas, Lohnau, Thora, Kasten, Meike, Hagenah, Johann, Brüggemann, Norbert, Graf, Julia, Münchau, Alexander, Kostic, Vladimir S., Sue, Carolyn M., Domingo, Aloysius R., Rosales, Raymond L., Lee, Lilian V., Freimann, Karen, Westenberger, Ana, Mukai, Youhei, Kawarai, Toshitaka, Kaji, Ryuji, Klein, Christine, Martemyanov, Kirill A., Schmidt, Alexander
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4237020/
https://ncbi.nlm.nih.gov/pubmed/24535567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.4677
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