Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

OBJECTIVE: To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with hereditary spastic paraplegia (HSP) or typical Charcot-Marie-Tooth disease type 2 (CMT2). METHODS: KIF5A sequencing of the motor-domain coding exons w...

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Autors principals: Liu, Yo-Tsen, Laurá, Matilde, Hersheson, Joshua, Horga, Alejandro, Jaunmuktane, Zane, Brandner, Sebastian, Pittman, Alan, Hughes, Deborah, Polke, James M., Sweeney, Mary G., Proukakis, Christos, Janssen, John C., Auer-Grumbach, Michaela, Zuchner, Stephan, Shields, Kevin G., Reilly, Mary M., Houlden, Henry
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4141994/
https://ncbi.nlm.nih.gov/pubmed/25008398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000691
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