CLINICAL DISCUSSION

Issue Title File
Vol 15, No 2 (2025) Suppression of segmental cervical motor evoked potential in postanoxic encephalopathy in a child: clinical case PDF
(Rus)
Kanshina D.S., Akhadov T.A., Zykov V.P., Nikitin S.S.
Vol 15, No 1 (2025) Overlap of myasthenia gravis, myocarditis, and inflammatory myopathy secondary to immune checkpoint inhibitor (pembrolizumab) on a background of previously undiagnosed thymoma-associated acetylcholine receptor antibody-positive myasthenia gravis PDF
(Rus)
Finleyson O.V.
Vol 15, No 1 (2025) Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 PDF
(Rus)
Sharova M.V., Markova T.V., Chukhrova A.L., Shchagina O.A., Dadali E.L.
Vol 14, No 3 (2024) Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case PDF
(Rus)
Kraeva L.S., Fadeeva E.V.
Vol 14, No 2 (2024) EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report) PDF
(Rus)
Afandieva L.Z., Gaynetdinova D.D., I D.V.
Vol 14, No 2 (2024) Delayed motor, mental and speech development and congenital brain malformations: the first description of Zhu–Tokita–Takenouchi–Kim syndrome in Russia PDF
(Rus)
Kondakova O.B., Gudkova A.P., Demyanov S.V., Davydova Y.I., Lyalina A.A., Grebenkin D.I., Bakovich E.A., Kanivets I.V., Demyanov D.S., Zhanin I.S., Pushkov A.A., Savostyanov K.V.
Vol 14, No 1 (2024) Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns PDF
(Rus)
Artemyeva S.B., Shidlovskaya O.A., Papina Y.O., Monakhova A.V., Shulyakova I.V., Belousova E.D., Germanenko O.Y., Vlodavets D.V.
Vol 13, No 4 (2023) Glutaric aciduria type 1 – the mask cerebral palsy (case report) PDF
(Rus)
I D.V., Shcherbakov G.E., Duplishcheva V.A., Seregin S.A., Gaynetdinova D.D.
Vol 13, No 4 (2023) Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case PDF
(Rus)
Artemyeva S.B., Shidlovskaya О.А., Papina Y.О., Monakhova А.V., Shulyakov I.V., Vlodavets D.V.
Vol 13, No 4 (2023) A clinical case of severe aromatic L-amino acid decarboxylase deficiency PDF
(Rus)
Shidlovskaya O.A., Artemyeva S.B., Belousova E.D., Gorchkhanova Z.K.
Vol 13, No 3 (2023) Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the PAX3 gene PDF
(Rus)
Markova T.V., Mavlyukeeva V.V., Ginzburg B.G., Shchagina O.A., Nikitin S.S., Dadali E.L.
Vol 13, No 3 (2023) Methodology of botulinum therapy in the treatment of dystonic scoliosis in generalized dystonia (clinical case) PDF
(Rus)
Misikov V.K., Kovalenko A.P., Kondur A.A.
Vol 13, No 3 (2023) Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene PDF
(Rus)
Sharkova I.V., Nikitin S.S., Markova T.V., Voskanyan A.E., Melnik E.A., Shchagina O.A., Dadali E.L.
Vol 13, No 2 (2023) Anti-SRP antibody-associated necrotizing myopathy: 2 clinical cases PDF
(Rus)
Abbasov F.A., Zemtsova G.V., Popov P.A., Chekhonatskaya K.I., Kukhno D.V., Severova M.M., Shmyreva M.V., Kindarova A.A., Schekochikhin D.Y.
Vol 12, No 4 (2022) Family case of aromatic L-amino acid decarboxylase deficiency PDF
(Rus)
Kondakova O.B., Kazakova K.A., Lyalina A.A., Lapshina N.V., Pushkov A.A., Mazanova N.N., Davydova Y.I., Grebenkin D.I., Kanivets I.V., Savostyanov K.V.
Vol 12, No 4 (2022) Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case PDF
(Rus)
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.
Vol 12, No 3 (2022) The first family case of spinocerebellar ataxia type 14 in Russia PDF
(Rus)
Nuzhnyy E.P., Abramycheva N.Y., Klyushnikov S.A., Illarioshkin S.N.
Vol 12, No 3 (2022) Juvenile amyotrophic lateral sclerosis type 4: case report and review PDF
(Rus)
Rudenskaya G.E., Nikitin S.S., Shatokhina O.L., Shchagina O.A.
Vol 12, No 1 (2022) Informative value of neurophysiological and neuroimaging research methods in the onset of spinal cord myelopathy: literature review and clinical observation PDF
(Rus)
Kanshina D.S., Surma M.A., Badamshina E.V., Bronov O.Y.
Vol 11, No 4 (2021) Ramsey Hunt syndrome in the child: case report and treatment approach PDF
(Rus)
Shakaryan A.K., Mitrofanova I.V., Shakhgildyan S.V.
Vol 11, No 3 (2021) New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case) PDF
(Rus)
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.
Vol 11, No 3 (2021) Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene PDF
(Rus)
Dadali E.L., Markova T.V., Ryzhkova O.P.
Vol 11, No 2 (2021) Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene PDF
(Rus)
Markova T.V., Dadali E.L., Nikitin S.S., Murtazina A. .,  Mironovich O.L., Kanivets I. .
Vol 11, No 2 (2021) Miller Fisher syndrome developed after a previous COVID-19 infection (case report) PDF
(Rus)
Malko V.A., Klimov P.V., Topuzova M.P., Yarush I.V., Simakov K.V., Alekseeva T.M.
Vol 11, No 2 (2021) Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families PDF
(Rus)
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.
Vol 11, No 1 (2021) Dyke–Davidoff–Masson syndrome: description of clinical case with diagnostics by EEG, MRI, MR-tractography, fMRI PDF
(Rus)
Gumin I.S., Gubskiy I.L., Mironov M.B., Rubleva Y.V., Moizykevich E.R., Burd S.G., Lelyuk V.G.
Vol 10, No 4 (2020) Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene PDF
(Rus)
Dadali E.L., Borovikov A.O., Shchagina O.A., Mironovich O.L.
Vol 10, No 4 (2020) Specificity of recovery in acute motor axonal neuropathy with conduction blocks on the example of two clinical cases PDF
(Rus)
Grishina D.A., Suponeva N.A.
Vol 10, No 3 (2020) Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) PDF
(Rus)
Guseva D.M., Dadali E.L.
Vol 11, No 4 (2021) POLR3A-related hypomyelinating leukodystrophy: case report and literature review PDF
(Rus)
Murtazina A.F., Markova T.V., Orlova A.A., Ryzhkova O.P., Shchagina O.A., Dadali E.L.
Vol 10, No 2 (2020) Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment PDF
(Rus)
Kenis V.M., Komantsev V.N., Dimitrieva A.Y., Melchenko E.V., Morenko E.S.
Vol 10, No 1 (2020) Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) PDF
(Rus)
Dadali E.L., Markova T.V., Levchenko O.A., Chukhrova A.L., Shchagina O.A.
Vol 10, No 1 (2020) Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report PDF
(Rus)
Ivanova E.O., Fedotov E.Y., Illarioshkin S.N.
Vol 10, No 1 (2020) Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) PDF
(Rus)
Markova T.V., Borovikov A.O., Lozier E.R., Isaev A.A., Kaimonov V.S., Pomerantseva E.A., Konovalov F.A., Schagina O.A., Dadali E.L.
Vol 10, No 1 (2020) Experience of actovegin use in a patient with cognitive impairment in diabetes mellitus (clinical case) PDF
(Rus)
Ovsyuk M.V.
Vol 9, No 4 (2019) Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report PDF
(Rus)
Nikitin S.S., Grigoryeva V.N., Mashkovich K.A., Mironovich O.L., Ryadninskaya N.V., Polyakov A.V.
Vol 9, No 4 (2019) Case of hypokalemic paralysis due to use of drug containing therapeutic doses liquorice root PDF
(Rus)
Vasilenko A.F., Karpova M.I., Sergeitsev A.N., Zaliautdinova R.I.
Vol 9, No 4 (2019) Tremorography in the clinical practice PDF
(Rus)
Govorova T.G., Popova T.E., Tappakhov A.A.
Vol 9, No 3 (2019) Late-onset leukoencephalopathy with predominant damage to the brain stem, spinal cord and increased lactate (clinical observations) PDF
(Rus)
Karpova M.I., Vasilenko A.F., Korotkova D.G., Kochetkov I.V., Shestakova M.V., Buyanova G.V., Zaripova Z.Z.
Vol 9, No 3 (2019) The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage PDF
(Rus)
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.
Vol 9, No 3 (2019) Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients PDF
(Rus)
Dadali E.L., Sharkova I.V., Rudenskaya G.E., Nikitin S.S., Murtazina A.F., Ryzhkova O.P., Chukhrova A.L.
Vol 9, No 3 (2019) 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 PDF
(Rus)
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.
Vol 9, No 2 (2019) Late-onset Pompe disease: preliminary results of enzyme replacement therapy PDF
(Rus)
Smertina L.P., Ausheva F.I., Gryaznov A.V., Svetlakov D.A., Kolbasin L.N.
Vol 9, No 2 (2019) The use of rituximab in the treatment of disimmune polyneuropathy: a description of clinical cases and a literature review PDF
(Rus)
Kiselev V.N., Potapenko V.G.
Vol 9, No 1 (2019) Clinical case of Parry–Romberg syndrome PDF
(Rus)
Voitenkov V.B., Komantsev V.N., Ekusheva E.V., Skripchenko N.V., Marchenko N.V.
Vol 9, No 1 (2019) 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 PDF
(Rus)
Borovikov A.O., Sharkova I.V., Ryzhkova O.P., Chukhrova A.L., Schagina O.A., Markova T.V., Dadali E.L.
Vol 8, No 4 (2018) Pain in the lumbar spine: etiology, differential diagnosis and treatment (literature review and clinical case) PDF
(Rus)
Kargaltsev A.A., Makarov M.A.
Vol 8, No 4 (2018) Cardiofaciocutaneus syndrome: literature review and case report PDF
(Rus)
Umnov V.V., Nikitina N.V., Khodorovskaya A.M., Barlova O.V.
Vol 8, No 4 (2018) Christianic–Weber panniculitis in a young patient with myasthenia (description of clinical case) PDF
(Rus)
Torgashova A.N., Barabanova M.A., Porkhanov V.A., Timchenko L.V., Zhadan O.N., Baryshev A.G., Petropavlovskaya T.A., Stoyanova O.V., Triandafilov K.G., Terman E.A., Aliev K.B., Bondarovich K.A., Nevyantsev O.M., Golovko E.N., Elizbaryan I.S.
Vol 8, No 3 (2018) Clinical case study of Kearns–Sayre syndrome: diagnosis, methods of treatment PDF
(Rus)
Vlasenko S.V., Ponomarenko E.N., Kushnir G.M., Korsunskaya L.L., Larina N.V., Shalanin V.V., Usulceva N.I.
Vol 8, No 3 (2018) Features of high-dose intravenous immunotherapy administration in patients with reduced IgA level in neurological practice: literature review and description of a clinical case PDF
(Rus)
Rizvanova A.S., Belova N.V., Raskurazhev A.A., Grishina D.A., Litvinov N.I., Kutepov D.E., Ryabinkina Y.V., Latysheva T.V., Suponeva N.A.
Vol 8, No 2 (2018) A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy PDF
(Rus)
Kurbatov S.A., Milovidova T.B., Fedotov V.P., Murtazina A.F., Rudenskaya G.E., Shchagina O.A., Polyakov A.V.
Vol 8, No 1 (2018) Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient PDF
(Rus)
Naumova E.S., Nikitin S.S., Adyan T.A., Druzhinin D.S., Varshavskiy V.A.
Vol 8, No 1 (2018) Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan PDF
(Rus)
Kuzina L.A., Kaishibayeva G.S.
Vol 7, No 4 (2017) Presymptomatic genetic counseling in amyotrophic lateral sclerosis PDF
(Rus)
Shpilyukova Y.A., Rosliakova A.A., Zakharova M.N., Illarioshkin S.N.
Vol 7, No 3 (2017) Bickerstaff brainstem encephalitis, acute transverse myelitis, and acute motor axonal neuropathy: diagnostic and treatment challenges in patients with concomitant syndromes. Clinical observation PDF
(Rus)
Murtazina A.F., Naumova E.S., Nikitin S.S., Boriskina L.M., Lagutin A.V.
Vol 7, No 1 (2017) Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case) PDF
(Rus)
Kovalchuk M.O., Strokov I.A.
Vol 6, No 4 (2016) CHRONIC INTOXICATION WITH “LAUGHING GAS” (NITROUS OXIDE) AS A CAUSE OF B12 DEFICIENCY MYELOPOLYNEUROPATHY IN YOUNG ADULTS PDF
(Rus)
Suponeva N.A., Grishina D.A., Legostaeva L.A., Mochalova E.G.
Vol 6, No 4 (2016) THE SONOGRAPHIC DYNAMICS OF PERIPHERAL NERVES CROSS SECTIONAL AREA CHANGES IN MULTIFOCAL MOTOR NEUROPATHY TREATED WITH INTRAVENOUS IMMUNOGLOBULIN: CASE REPORT PDF
(Rus)
Nikitin S.S., Naumova E.S., Druzhinin D.S.
Vol 6, No 3 (2016) Küttner tumour as the cause of a hypoglossal nerve palsy: case report and literature review PDF
(Rus)
Borodulina I.V., Shvedkov V.V.
Vol 6, No 2 (2016) Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia PDF
(Rus)
Dadali E.L., Маkаоv A.K., Galkina V.A., Konovalov F.A., Polyakov A.V., Bulakh M.V., Zinchеnkо R.A.
Vol 6, No 2 (2016) New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2 PDF
(Rus)
Dadali E.L., Sharkova I.V., Nikitin S.S., Konovalov F.A.
Vol 6, No 1 (2016) Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy PDF
(Rus)
Fedotov V.P., Ryzhkova O.P., Polyakov A.V.
Vol 6, No 1 (2016) A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita PDF
(Rus)
Kurbatov S.A., Nikitin S.S., Illarioshkin S.N., Gundorova P., Polyakov A.V.
Vol 5, No 4 (2015) Clinical heterogeneity in Fabry disease PDF
(Rus)
Salogub G.N.
Vol 5, No 3 (2015) Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy PDF
(Rus)
Kurbatov S.A., Nikitin S.S., Zakharova E.Y.
Vol 5, No 2 (2015) Stiff-person syndrome with early onset in infancy PDF
(Rus)
Malmberg S.A., Dadali E.L., Jumakchanov D.B., Djaksibaeva A.K.
Vol 5, No 2 (2015) Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia PDF
(Rus)
Kurbatov S.A., Fedotov V.P., Tsygankova P.G., Zakharova E.Y., Lipovka S.N.
Vol 5, No 1 (2015) The hereditary progressive muscular dystrophy type 2A (calpainopathy): a clinical case PDF
(Rus)
Grishina D.A., Suponeva N.A., Shvedkov V.V., Belopasova A.V.
Vol 5, No 1 (2015) A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins PDF
(Rus)
Fedotov V.P., Kurbatov S.A., Nikitin S.S., Milovidova T.B., Galeeva N.M., Polyakov A.V.
Vol 4, No 3 (2014) The use of botulinum toxin type A in the treatment of spasticity of the lower limbs in stroke patients. Clinical case PDF
(Rus)
Kovalenko A.P.
Vol 4, No 3 (2014) Botulinum therapy for poststroke spasticity of the lower extremity (clinical cases) PDF
(Rus)
Krylova L.V., Khasanova D.R.
Vol 4, No 3 (2014) The preparations of Botulinum toxin type A in the treatment of lower limb post-stroke spasticity. Clinical observation PDF
(Rus)
Misikov V.K.
Vol 4, No 1 (2014) Case report of a child with combined genetic pathology: cystic fibrosis and facioscapulohumeral progressive muscular dystrophy PDF
(Rus)
Klochkova O.A., Kurenkov A.L., Mamedyarov A.M., Karimova H.M.
Vol 4, No 1 (2014) Late-onset Pompe disease: first clinical description in Russia PDF
(Rus)
Nikitin S.S., Kovalchuk M.O., Zaharova E.U., Tsivileva V.V.
Vol 3, No 4 (2013) A case of Pompe disease in infant PDF
(Rus)
Sudorgina E.F., Choloyan S.B., Sheenkova M.V., Kolesnikova L.P.
Vol 3, No 4 (2013) Lambert Eaton myasthenic syndrome and pregnancies with the development of transient myasthenic syndrome in newborn PDF
(Rus)
Shcherbakova N.I., Gurkina G.T., Kasatkina L.F., Rudnichenko V.A., Galkina O.I., Shvedkov V.V., Retinskaya I.G., Pavlov E.V., Shabalinа A.A., Kostyreva M.V.
Vol 3, No 3 (2013) Infantile-onset Pompe disease (the first case diagnosed in Voronezh) PDF
(Rus)
Fedotov V.P., Kleimenova I.S., Fedotova T.V., Stepanov D.S., Proskurina E.A., Zakharova E.Y.
Vol 3, No 2 (2013) Clinical case of the late diagnosis of neurolipomatosis (Dercum’s disease) PDF
(Rus)
Shnayder N.A., Kiselev I.A., Dmitrenko D.V.
Vol 3, No 1 (2013) Autosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral form PDF
(Rus)
Shnayder N.A., Nikolayeva T.Y., Boroeva E.N., Pshennikova G.M., Luginov N.V., Panina Y.S.
Vol 2, No 4 (2012) 2 cases transformation myasthenia gravis to amyotrophic lateral sclerosis PDF
(Rus)
Sanadze A.G., Kasatkina L.F.
Vol 2, No 4 (2012) Lumbosacral motor polyneuropathy PDF
(Rus)
Malmberg S.A., Rudenko E.N.
Vol 2, No 4 (2012) Infantile Pompe disease: Clinical picture, diagnosis, and treatment PDF
(Rus)
Kotlukova N.P., Mikhailova S.V., Bukina T.M., Zakharova E.Y.
Vol 2, No 3 (2012) Случай диагностики проксимальной спинальной амиотрофии с врожденными переломами PDF
(Rus)
., ., ., ., .
Vol 2, No 2 (2012) Recurrent peroneal neuropathy in adolescent: clinical case PDF
(Rus)
Bulanova V.A., Druzhinin D.S.
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