De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Chemin, Jean; Siquier-Pernet, Karine; Nicouleau, Michaël; Barcia, Giulia; Ahmad, Ali; Medina-Cano, Daniel; Hanein, Sylvain; Altin, Nami; Hubert, Laurence; Bole-Feysot, Christine; Fourage, Cécile; Nitschké, Patrick; Thevenon, Julien; Rio, Marlène; Blanc, Pierre; Vidal, Céline; Bahi-Buisson, Nadia; Desguerre, Isabelle; Munnich, Arnold; Lyonnet, Stanislas; Boddaert, Nathalie; Fassi, Emily; Shinawi, Marwan; Zimmerman, Holly; Amiel, Jeanne; Faivre, Laurence; Colleaux, Laurence; Lory, Philippe; Cantagrel, Vincent.
Brain; 141(7): 1998-2013, 2018 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-29878067

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