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Cardiac involvement in children with neuro-muscular disorders
Arkhipova E.N.
Autosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral form
Shnayder N.A., Nikolayeva T.Y., Boroeva E.N., Pshennikova G.M., Luginov N.V., Panina Y.S.
Stages of research and development of therapeutic approaches for Duchenne myodystrophy. Part I: the period before etiotropic approaches introduction
Kochergin-Nikitskiy K.S., Smirnikhina S.A., Lavrov A.V.
Adequate managment of patients with dystrophinopathies (muscular dystrophy Duchenne/Becker): objective scales and additional diagnostic methods
Nosko A.S., Kurenkov A.L., Nikitin S.S., Zykov V.P.
Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development
Sharkova I.V., Dadali E.L.
Stages of research and development of therapeutic approaches for Duchenne myodystrophy. Part II: etiotropic approaches
Kochergin-Nikitskiy K.S., Smirnikhina S.A., Lavrov A.V.
General principles of vaccination of patients with neuromuscular diseases
Skorikov M.S., Vlodavets D.V.
New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case)
Kozhanova T.V., Zhilina S.S., Mescheryakova T.I., Shorina M.Y., Demenshin I.F., Prokopiev G.G., Kanivets I.V., Suchorukov V.S., Anufriev P.L., Baranich T.I., Kozina A.A., Prityko A.G.
The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage
Bardakov S.N., Deev R.V., Mavlikeev M.O., Umakhanova Z.R., Akhmedova P.G., Magomedova R.M., Zulfugarov K.Z., Tsargush V.A., Chekmareva I.A., Yakovlev I.A., Dalgatov G.D., Yakubovsky G.I., Isaev A.A.
Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case
Kraeva L.S., Fadeeva E.V.
Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case
Artemyeva S.B., Shidlovskaya О.А., Papina Y.О., Monakhova А.V., Shulyakov I.V., Vlodavets D.V.
Consensus concept of modern effective therapy for Duchenne muscular dystrophy
Gremyakova T.A., Artemyeva S.B., Baybarina E.N., Vashakmadze N.D., Guzeva V.I., Gusakova E.V., Kuzenkova L.M., Lavrova A.E., Lvova O.A., Mikhaylova S.V., Nazarenko L.P., Nikitin S.S., Polyakov A.V., Dadali E.L., Rumyantsev A.G., Sakbaeva G.E., Suslov V.M., Gremyakova O.I., Stepanov A.A., Shakhovskaya N.I.
New classification of limb-girdle muscular dystrophy
Sidorova O.P., Kotov A.S., Bunak M.S., Filyushkin Y.N.
Clinical and genetic characteristics of congenital muscular dystrophies (part 2)
Chausova P.A., Ryzhkova O.P., Polyakov A.V.
Mitochondrial disorders in neuromuscular pathology
Kotov S.V., Sidorova O.P., Borodataya E.V.
Muscle MRI / whole-body MRI in diagnosis and dynamic evaluation of neuro-muscular disorders
Carlier R.
Muscular dystrophy associated with the DMD gene in women
Vorontsova E.O., Zinina A.V., Shchagina O.A.
Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan
Kuzina L.A., Kaishibayeva G.S.
The hereditary progressive muscular dystrophy type 2A (calpainopathy): a clinical case
Grishina D.A., Suponeva N.A., Shvedkov V.V., Belopasova A.V.
The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results
Kekeeva T.N., Pechatnikova N.L., Vitkovskaya I.P., Kakaulina V.S., Krasnoschekova N.A., Martynenko Y.E.
The concept of “ambulatory” and “non-ambulatory” in patients with Duchenne muscular dystrophy: definitions and criteria
Gremyakova T.A., Artemyeva S.V., Vashakmadze N.D., Vitkovskaya I.P., Guzeva V.I., Guzeva O.V., Kuzenkova L.M., Mikhailova S.V., Nazarenko L.P., Pervunina T.M., Pechatnikova N.L., Podkletnova T.V., Sakbaeva G.E., Stepanov A.A., Suslov V.M., Gremyakova O.I., Shakhovskaya N.I., Nikitin S.S.
Clinical and genetic characteristics of congenital muscular dystrophies (Part 1)
Chausova P.A., Ryzhkova O.P., Polyakov A.V.
Dynamics of the course of Duchenne muscular dystrophy in patients taking ataluren and concomitant drug and non-drug therapy
Suslov V.M., Liberman L.N., Rudenko D.I., Suslova G.A.
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.
Дисферлинопатии: проблема за пределами дистальных миопатий
Assessment of walking in patients with Duchenne muscular dystrophy receiving ataluren in real clinical practice
Aizatulina D.V., Nikitin S.S.
Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future
Zinina E.V., Bulakh M.V., Ryzhkova O.P., Shchagina O.A., Polyakov A.V.
Laboratory studies and Pompe disease: from suspicion to therapy monitoring
Savost’yanov K.V., Nikitin S.S., Karpacheva K.E.
Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case
Bardakov S.N., Emelin A.М., Nikitin S.S., Khelkovskaya-Sergeeva A.N., Limaev I.S., Murtazina A.F., Tsargush V.A., Gusev M.V., Safronova Y.V., Kaimonov V.S., Isaev A.A., Deev R.V.
Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs
Nikitin S.S.
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.
Diversity of VCP-related phenotypes: case report and literature review
Rudenskaya G.E., Mironovich O.L., Murtazina A.F., Shchagina O.A.
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.
1 - 33 of 33 Items

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