SLC25A46 mutations associated with Autosomal Recessive Cerebellar Ataxia in North African families

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) is a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure and complicating clinical features such as pyramidal signs or extra-neurological features are fou...

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Bibliografiske detaljer
Udgivet i:Neurodegener Dis
Main Authors: Hammer, Monia B., Ding, Jinhui, Mochel, Fanny, Eleuch-Fayache, Ghada, Charles, Perrine, Coutelier, Marie, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Majounie, Elisa, Clipman, Steven, Bouhlal, Yosr, Nehdi, Houda, Brice, Alexis, Hentati, Faycal, Stevanin, Giovanni, Amouri, Rim, Durr, Alexandra, Singleton, Andrew B.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5540751/
https://ncbi.nlm.nih.gov/pubmed/28558379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000464445
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