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Title
Authors
Vol 7, No 4 (2017)
Presymptomatic genetic counseling in amyotrophic lateral sclerosis
Shpilyukova Y.A., Rosliakova A.A., Zakharova M.N., Illarioshkin S.N.
PDF
(Rus)
Vol 7, No 3 (2017)
Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy
Semenova N.A., Dadali E.L., Sharkov A.A., Akimova I.A.
PDF
(Rus)
Vol 5, No 3 (2015)
Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy
Sharkova I.V., Dadali E.L., Ugarov I.V., Ryzhkova O.P., Polyakov A.V.
PDF
(Rus) PDF
(Eng)
Vol 5, No 1 (2015)
Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature
Grishina D.A., Suponeva N.A., Shvedkov V.V., Belopasova A.V.
PDF
(Rus)
Vol 14, No 3 (2024)
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.
PDF
(Rus)
Vol 2, No 1 (2012)
Organization experience of diagnostic and medicosocial services for patients with Charcot—Marie—Tooth disease in Krasnoyarsk region
Glushchenko E.V., Shnayder N.A., Kantimirova E.A., Kozulina E.A., Voevoda M.I., Maksimov V.N., Allakhverdyan A.A.
PDF
(Rus)
Vol 14, No 3 (2024)
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.
PDF
(Rus) PDF
(Eng)
Vol 2, No 1 (2012)
Genetic heterogeneity of hereditary diseases of nervous system: problems and solutions
Dadali E.L., Ginter E.K., Polyakov A.B.
PDF
(Rus)
Vol 10, No 1 (2020)
Clinical and genetic characteristics of congenital muscular dystrophies (Part 1)
Chausova P.A., Ryzhkova O.P., Polyakov A.V.
PDF
(Rus)
Vol 3, No 3 (2013)
Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis
Zabnenkova V.V., Dadali E.L., Polyakov A.V.
PDF
(Rus)
Vol 9, No 3 (2019)
Late-onset leukoencephalopathy with predominant damage to the brain stem, spinal cord and increased lactate (clinical observations)
Karpova M.I., Vasilenko A.F., Korotkova D.G., Kochetkov I.V., Shestakova M.V., Buyanova G.V., Zaripova Z.Z.
PDF
(Rus)
Vol 3, No 2 (2013)
Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types
Sharkova I.V., Dadali E.L., Ryzhkova O.P., Evdokimenkov V.N.
PDF
(Rus)
1 - 12 of 12 Items

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