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Title
Authors
Vol 11, No 1 (2021)
Diversity of VCP-related phenotypes: case report and literature review
Rudenskaya G.E., Mironovich O.L., Murtazina A.F., Shchagina O.A.
PDF
(Rus)
Vol 6, No 4 (2016)
MOLECULAR STRUCTURE OF AMYOTROPHIC LATERAL SCLEROSIS IN RUSSIAN POPULATION
Abramycheva N.Y., Lysogorskaya E.V., Shpilyukova Y.S., Vetchinova A.S., Zakharova M.N., Illarioshkin S.N.
PDF
(Rus)
Vol 6, No 2 (2016)
Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
Dadali E.L., Маkаоv A.K., Galkina V.A., Konovalov F.A., Polyakov A.V., Bulakh M.V., Zinchеnkо R.A.
PDF
(Rus)
Vol 6, No 1 (2016)
Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy
Fedotov V.P., Ryzhkova O.P., Polyakov A.V.
PDF
(Rus)
Vol 15, No 1 (2025)
Assessment of walking in patients with Duchenne muscular dystrophy receiving ataluren in real clinical practice
Aizatulina D.V., Nikitin S.S.
PDF
(Rus)
Vol 3, No 3 (2013)
Infantile-onset Pompe disease (the first case diagnosed in Voronezh)
Fedotov V.P., Kleimenova I.S., Fedotova T.V., Stepanov D.S., Proskurina E.A., Zakharova E.Y.
PDF
(Rus)
Vol 13, No 1 (2023)
Change in the spectrum of detected mutations in the DMD gene depending on the methodological capabilities of the laboratory
Zinina E.V., Bulakh M.V., Ryzhkova O.P., Shchagina O.A., Polyakov A.V.
PDF
(Rus)
Vol 12, No 3 (2022)
Juvenile amyotrophic lateral sclerosis type 4: case report and review
Rudenskaya G.E., Nikitin S.S., Shatokhina O.L., Shchagina O.A.
PDF
(Rus)
Vol 12, No 3 (2022)
The first family case of spinocerebellar ataxia type 14 in Russia
Nuzhnyy E.P., Abramycheva N.Y., Klyushnikov S.A., Illarioshkin S.N.
PDF
(Rus)
1 - 9 of 9 Items

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