Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family with Hexanucleotide Repeat Expansions in C9orf72

IMPORTANCE: To report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72. OBSERVATIONS: A 65 year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She w...

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Detalhes bibliográficos
Main Authors: Goldman, Jill, Quinzii, Catarina M., Dunning- Broadbent, Jane, Waters, Cheryl, Mitsumoto, Hiroshi, Brannagan, Thomas H., Cosentino, Stephanie, Huey, Edward, Nagy, Peter, Kuo, Sheng-Han
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4051831/
https://ncbi.nlm.nih.gov/pubmed/24733620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.5762
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