A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

Hereditary cerebellar ataxias (CAs) are neurodegenerative disorders clinically characterized by a cerebellar syndrome, often accompanied by other neurological or non-neurological signs. All transmission modes have been described. In autosomal-dominant CA (ADCA), mutations in more than 30 genes are i...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Coutelier, Marie, Blesneac, Iulia, Monteil, Arnaud, Monin, Marie-Lorraine, Ando, Kunie, Mundwiller, Emeline, Brusco, Alfredo, Le Ber, Isabelle, Anheim, Mathieu, Castrioto, Anna, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Lory, Philippe, Stevanin, Giovanni
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4667105/
https://ncbi.nlm.nih.gov/pubmed/26456284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.09.007
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