Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

OBJECTIVE: We examined the clinical and pathologic phenotypes of GRN mutation carriers with the pathogenic A9D (g.26C>A) missense mutation. METHODS: Three patients with GRN A9D mutations were evaluated clinically and came to autopsy with subsequent neuropathologic examination. RESULTS: The clinic...

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Detalhes bibliográficos
Main Authors: Cannon, Ashley, Fujioka, Shinsuke, Rutherford, Nicola J., Ferman, Tanis J., Broderick, Daniel F., Boylan, Kevin B., Graff-Radford, Neill R., Uitti, Ryan J., Rademakers, Rosa, Wszolek, Zbigniew K., Dickson, Dennis W.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3719429/
https://ncbi.nlm.nih.gov/pubmed/23596077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182919059
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