Výsledky vyhledávání - "O A, Shagina"

[Hereditary motor and sensory neuropathy type 4A]

Autor: O A, Shagina, E L, Dadali, V P, Fedotov, T B, Tiburkova, A V, Poliakov

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 110(5 Pt 1)

The first in the Russian Federation clinical cases of patients with autosomal-recessive type of hereditary motor and sensory neuropathy, type 4A, (HMSN 4A) are presented. In all cases, the diagnosis has been verified using molecular-genetic methods (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f35b20d534641837a584350951827601
https://pubmed.ncbi.nlm.nih.gov/21322820

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[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A]

Autor: E L, Dadali, O A, Shagina, O P, Ryzhkova, G E, Rudenskaia, V P, Fedotov, A V, Poliakov

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 110(4)

We present the results of the molecular genetic study of 26 patients, aged from 12 to 60 years, from 24 unrelated families with limb girdle-muscular dystrophy (LGMD) type 2A. The disease duration varied from 6 months to 30 years. The diagnosis of LGM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35ce9016f4167a96b1ebadbc8183d103
https://pubmed.ncbi.nlm.nih.gov/20517216

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