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Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series
Murtazina A.F., Tsabay P.N., Rudenskaya G.E., Bessonova L.A., Bostanova F.M., Guseva D.M., Sharkova I.V., Shchagina O.A., Orlova A.A., Ryzhkova O.P., Markova T.V., Kuchina A.S., Nikitin S.S., Dadali E.L.
Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report
Nikitin S.S., Grigoryeva V.N., Mashkovich K.A., Mironovich O.L., Ryadninskaya N.V., Polyakov A.V.
General principles of vaccination of patients with neuromuscular diseases
Skorikov M.S., Vlodavets D.V.
New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
Dadali E.L., Sharkova I.V., Nikitin S.S., Konovalov F.A.
Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q
Vlasenko A.I., Nazarov V.D., Lapin S.V., Mazing A.V., Surkova E.A., Blinova T.V., Alekseeva T.M.
Molecular mechanism of neurodegeneration in spinal muscular atrophy
Vlasenko A.I., Nazarov V.D., Lapin S.V., Mazing A.V., Surkova E.A., Blinova T.V., Topuzova M.P., Alekseeva T.M.
Experience with nusinersen as a pathogenetic therapy in adult patients with spinal muscular atrophy 5q in the Republic of Bashkortostan
Umutbaev S.V., Murzabaeva L.S., Kutlubaev M.A., Shishigin A.V., Sharipov T.N., Sayfullina E.V., Мagzhanov R.V.
Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia
Kurbatov S.A., Tsygankova P.G., Mollaeva K.Y., Bychkov I.O., Itkis Y.S., Zabnenkova V.V., Umakhanova Z.R., Geybatova L.G., Zakharova E.Y.
SMArt Retro study: a retrospective data analysis of the Russian registry of patients with spinal muscular atrophy
Vlodavets D.V., Shchagina O.A., Polyakov A.V., Kutsev S.I.
Adult spinal muscular atrophy: problems of early diagnosis
Shpilyukova Y.A., Illarioshkin S.N.
Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns
Artemyeva S.B., Shidlovskaya O.A., Papina Y.O., Monakhova A.V., Shulyakova I.V., Belousova E.D., Germanenko O.Y., Vlodavets D.V.
Characteristics of genetic changes in the SMN1 gene in spinal muscular atrophy 5q
Dil A.V., Nazarov V.D., Sidorenko D.V., Lapin S.V., Emanuel V.L.
Factors modifying the course of spinal muscular atrophy 5q
Akhkiamova M.A., Shchagina O.A., Polyakov A.V.
Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects
Tebieva I.S., Murtazina A.F., Artemieva S.B., Gabisova Y.V., Zinchenko R.A.
Случай диагностики проксимальной спинальной амиотрофии с врожденными переломами
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Experience of using onasemnogen abeparvovek in children with spinal muscular atrophy 5q with 2 or 3 copies of the SMN2 gene in a multidisciplinary center in Saint Petersburg
Shchugareva L.M., Koroleva V.D., Poteshkina O.V.
Experience of using gene replacement therapy with Zolgensma® (onasemnogene abeparvovec) in real clinical practice in Russia
Artemyeva S.B., Papina Y.O., Shidlovskaya O.A., Monakhova A.V., Vlodavets D.V.
Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis
Zabnenkova V.V., Dadali E.L., Polyakov A.V.
Assessment of social emotional, cognitive and communicative development and adaptive behavior in children with spinal muscular atrophy 5q
Papina Y.O., Zavadenko N.N., Melnik E.A., Artemyeva S.B., Berdalina I.A., Vlodavets D.V.
Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
Popov K.D., Alekseeva T.M., Nazarov V.D., Vlasenko A.I., Malyshev S.M.
Diagnostic criteria for spinal muscular atrophy 5q
Sharkova I.V., Dadali E.L., Nikitin S.S.
Functional class criteria identification in patients with spinal muscular atrophy 5q
Papina Y.O., Melnik E.A., Belousova E.D., Artemyeva S.B., Monakhova A.V., Shidlovskaya O.A., Shulyakova I.V., Vlodavets D.V.
Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation
Komarov I.A., Malakhova A.R., Vasilyeva T.P., Shukan E.Y., Aleksandrova O.Y., Zinchenko R.A., Polyakov A.V., Nikitin S.S., Sapego E.Y., Kutsev S.I.
The efficacy and safety of nusinersen within the expanded access program in Russia
Artemieva S.B., Kuzenkova L.M., Ilyina E.S., Kursakova Y.A., Kolpakchi L.M., Sapego E.Y., Golenko A.A., Popovich S.G., Parshin D.V., Shidlovskaya O.A., Papina Y.O., Monakhova A.V., Vlodavets D.V.
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