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Botulinum toxin type A chemodenervation treatment in spastic forms of cerebral palsy
Kurenkov A.L., Nikitin S.S., Artemenko A.R., Bursagova B.I., Kuzenkova L.M., Petrova S.A., Klochkova O.A., Mamedyarov A.M.
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.
Neurofibromatosis: analysis of clinical cases and new diagnostic criteria
Makashova E.S., Karandasheva K.O., Zolotova S.V., Ginzberg M.A., Dorofeeva M.Y., Galkin M.V., Golanov A.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.
Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene
Sharkova I.V., Nikitin S.S., Markova T.V., Voskanyan A.E., Melnik E.A., Shchagina O.A., Dadali E.L.
Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene
Borovikov A.O., Sharkova I.V., Ryzhkova O.P., Chukhrova A.L., Schagina O.A., Markova T.V., Dadali E.L.
Cardiac involvement in children with neuro-muscular disorders
Arkhipova E.N.
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.
Juvenile amyotrophic lateral sclerosis type 4: case report and review
Rudenskaya G.E., Nikitin S.S., Shatokhina O.L., Shchagina O.A.
Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients
Dadali E.L., Konovalov F.A., Akimova I.A., Sharkov A.A., Rudenskaya G.E., Mikhaylova S.V., Korostelev S.A.
Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy
Kurbatov S.A., Nikitin S.S., Zakharova E.Y.
The first family case of spinocerebellar ataxia type 14 in Russia
Nuzhnyy E.P., Abramycheva N.Y., Klyushnikov S.A., Illarioshkin S.N.
Sleep disorders of insomnia type in patients with amyotrophic lateral sclerosis
Levitskiy G.N., Poluektov M.G.
Dynamics of electrophysiological parameters of distal symmetric polyneuropathy in the course of pregnancy of women with type 1 diabetes mellitus
Poroshnichenko A.I., Burshinov A.O.
Characteristics of soft tissues at the apex of the deformity in patients with kyphoscoliosis with underlying type 1 neurofibromatosis
Shchurova E.N., Gorbach E.N., Filimonova G.N., Ryabykh S.O., Ochirova E.N.
A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins
Fedotov V.P., Kurbatov S.A., Nikitin S.S., Milovidova T.B., Galeeva N.M., Polyakov A.V.
The diagnosis and pathogenesis of chronic alcoholic myopathy
Kazantseva Y.V., Zinovyeva O.E., Shenkman B.S., Shcheglova N.S., Lysenko E.A.
POLR3A-related hypomyelinating leukodystrophy: case report and literature review
Murtazina A.F., Markova T.V., Orlova A.A., Ryzhkova O.P., Shchagina O.A., Dadali E.L.
Pompe disease and ophthalmopathy: literature review
Brignol T., Urtizberea J.
The preparations of Botulinum toxin type A in the treatment of lower limb post-stroke spasticity. Clinical observation
Misikov V.K.
Practical aspects of therapy for glutaric aciduria type 1
Zakharova E.Y., Mikhailova S.V., Zarubina V.V., Krasnoshchekova N.A., Pechatnikova N.L., Vorontsova V.P., Gribov D.I., Zazivihina M.V., Slatetskaya А.N., Kurkina M.V., Baranova P.V., Nazarenko L.P., Repina S.А., Selimsyanova L.R., Vashakmadse N.D., Bushueva T.V.
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.
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes
Fedotov V.P., Kurbatov S.A., Ivanova E.A., Galeeva N.M., Polyakov A.V.
The use of botulinum toxin type A in the treatment of spasticity of the lower limbs in stroke patients. Clinical case
Kovalenko A.P.
Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene
Dadali E.L., Markova T.V., Melnik E.A., Nikitin S.S., Sharkova I.V., Khalanskaya O.V., Bessonov L.A., Shestopalova E.A., Ryzhkova O.P., Trofimova S.I., Agranovich O.E., Kutsev S.I.
Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families
Mikhailova S.V., Saifullina E.V., Baranova P.V., Vorontsova V.P., Gribov D. ., Zhivihina M.V., Slatetskaya A.N., Magzhanov R. ., Samokhvalov V.A.,  Virtseva M. ., Borscheva L.P.,  Koh E. .,  Novikova M.V., Abrukova A.V., Belyashova E.Y., Gerasimenko N. ., Guseva L.V., Yukhimenko Z.V., Nikitina N.V., Belyaeva T. .,  Shkurko T.A.,  Pichkur N.A., Kakaulina V.S., Pechatnikova N.L., Polyakova N. ., Korostelev S.A., Pyankov D. ., Kanivets I. .,  Demina N.A., Pyrkova E.Y., Baidakova G.V., Kurkina M. .,  Zakharova E.Y.
A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita
Kurbatov S.A., Nikitin S.S., Illarioshkin S.N., Gundorova P., Polyakov A.V.
The prevalence and risk factors of diabetic polyneuropathy in inpatients with type 1 diabetes
Strokov I.A., Melnichenko G.A., Albekova Z.S., Zilov A.V., Akhmedzhanova L.T.
Use of botulinum toxin type A (Botox) in the treatment of infantile cerebral palsy
Kurenkov A.L., Klochkova O.A., Bursagova B.I., Kuzenkova L.M., Karimova K.M., Mamedyarov A.M., Artemenko A.R., Petrova S.A.
Cognitive and emotional disturbances in adult patients with myotonic dystrophy type 1
Erokhina E.K., Shamtieva K.V., Melnik E.A., Kazakov D.O., Kurbatov S.A., Pavlikova E.P., Tikhonova O.A., Mershina E.A., Sinitsyn V.E., Vlodavets D.V.
Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958)
Dadali E.L., Markova T.V., Levchenko O.A., Chukhrova A.L., Shchagina O.A.
Laboratory studies and Pompe disease: from suspicion to therapy monitoring
Savost’yanov K.V., Nikitin S.S., Karpacheva K.E.
Botulinum neurotoxin and chronic migraine: muscle fiber chemodenervation or nociceptic system modulation?
Artemenko A.R., Kurenkov A.L., Nikitin S.S., Belomestova K.B.
Late-onset Pompe disease: first clinical description in Russia
Nikitin S.S., Kovalchuk M.O., Zaharova E.U., Tsivileva V.V.
1 - 34 of 34 Items

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