Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

INTRODUCTION: SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. OBJECTIVE: The present study was aimed at describing the clini...

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Detalhes bibliográficos
Publicado no:Parkinsonism Relat Disord
Main Authors: Borroni, Barbara, Di Gregorio, Eleonora, Orsi, Laura, Vaula, Giovanna, Costanzi, Chiara, Tempia, Filippo, Mitro, Nico, Caruso, Donatella, Manes, Marta, Pinessi, Lorenzo, Padovani, Alessandro, Brusco, Alfredo, Boccone, Loredana
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier Science 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4925464/
https://ncbi.nlm.nih.gov/pubmed/27143115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2016.04.030
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