Výsledky vyhledávání - "Acary B. Oliveira"

Akademický článek

Relationship between muscle strength and motor function in Duchenne muscular dystrophy

Autor: Milene F. Nunes, Michele E. Hukuda, Francis M. Favero, Acary B. Oliveira, Mariana C. Voos, Fátima A. Caromano

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 74, Iss 7, Pp 530-535 (2016)

ABSTRACT Measuring muscle strength and motor function is part of Duchenne muscular dystrophy (DMD) assessment. However, the relationship between these variables is controversial. Objective To investigate the relationship between muscle strength and m

Externí odkaz: https://doaj.org/article/1ee7cd823b744204a9eb688857891703

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Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

Autor: Juliana, Gurgel-Giannetti, Adriano S, Senkevics, Dinorah, Zilbersztajn-Gotlieb, Lydia U, Yamamoto, Viviane P, Muniz, Rita C M, Pavanello, Acary B, Oliveira, Mayana, Zatz, Mariz, Vainzof

Publikováno v: Musclenerve. 45(2)

We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5a9e01f7e072abc077823b97e230cd7e
https://pubmed.ncbi.nlm.nih.gov/22246887

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