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Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only 18 SCA19/22 families and sporadic cases of different ethnic backgrounds have been previously reported....

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Detalles Bibliográficos
Autores principales: Paucar, Martin, Bergendal, Åsa, Gustavsson, Peter, Nordenskjöld, Magnus, Laffita-Mesa, José, Savitcheva, Irina, Svenningsson, Per
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028832/
https://www.ncbi.nlm.nih.gov/pubmed/29527639
http://dx.doi.org/10.1007/s12311-018-0927-4