Search

Issue
Title
Authors
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.
Cardiac involvement in children with neuro-muscular disorders
Arkhipova E.N.
Case report of a child with combined genetic pathology: cystic fibrosis and facioscapulohumeral progressive muscular dystrophy
Klochkova O.A., Kurenkov A.L., Mamedyarov A.M., Karimova H.M.
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.
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.
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.
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.
General principles of vaccination of patients with neuromuscular diseases
Skorikov M.S., Vlodavets D.V.
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.
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.
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.
Muscular dystrophy associated with the DMD gene in women
Vorontsova E.O., Zinina A.V., Shchagina O.A.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Laboratory studies and Pompe disease: from suspicion to therapy monitoring
Savost’yanov K.V., Nikitin S.S., Karpacheva K.E.
Diversity of VCP-related phenotypes: case report and literature review
Rudenskaya G.E., Mironovich O.L., Murtazina A.F., Shchagina O.A.
Mitochondrial disorders in neuromuscular pathology
Kotov S.V., Sidorova O.P., Borodataya E.V.
1 - 32 of 32 Items

Search tips:

  • Search terms are case-insensitive
  • Common words are ignored
  • By default only articles containing all terms in the query are returned (i.e., AND is implied)
  • Combine multiple words with OR to find articles containing either term; e.g., education OR research
  • Use parentheses to create more complex queries; e.g., archive ((journal OR conference) NOT theses)
  • Search for an exact phrase by putting it in quotes; e.g., "open access publishing"
  • Exclude a word by prefixing it with - or NOT; e.g. online -politics or online NOT politics
  • Use * in a term as a wildcard to match any sequence of characters; e.g., soci* morality would match documents containing "sociological" or "societal"