Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

OBJECTIVE: To ascertain the genetic and functional basis of complex autosomal recessive cerebellar ataxia (ARCA) presented by 2 siblings of a consanguineous family characterized by motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, and slow ocular saccades. METHODS:...

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Udgivet i:Neurol Genet
Main Authors: Mendoza-Ferreira, Natalia, Coutelier, Marie, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Löhr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni, Wirth, Brunhilde
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5775069/
https://ncbi.nlm.nih.gov/pubmed/29379881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000209
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