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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Pubblicato in:JAMA Neurol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online: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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