GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as the main hallmark. Here, we report two unrelated patients with a new subtype of autosomal recessive cerebellar ataxia caused by biallelic, gene-disrupti...

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Detalles Bibliográficos
Autores principales: Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Deconinck, Tine, van Ninhuijs, Lisa, Martin, Jean-Jacques, Schüle, Rebecca, Züchner, Stephan, De Jonghe, Peter, Schenck, Annette, van de Warrenburg, Bart P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534050/
https://www.ncbi.nlm.nih.gov/pubmed/30084953
http://dx.doi.org/10.1093/brain/awy198

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534050/
https://www.ncbi.nlm.nih.gov/pubmed/30084953
http://dx.doi.org/10.1093/brain/awy198

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