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| 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 |
Abstract
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O. V. Finleyson |
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| Vol 15, No 1 (2025) |
Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 |
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M. V. Sharova, T. V. Markova, A. L. Chukhrova, O. A. Shchagina, E. L. Dadali |
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| Vol 14, No 3 (2024) |
Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case |
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L. S. Kraeva, E. V. Fadeeva |
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| Vol 14, No 2 (2024) |
EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report) |
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L. Z. Afandieva, D. D. Gaynetdinova, D. V. I |
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| 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 |
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O. B. Kondakova, A. P. Gudkova, S. V. Demyanov, Yu. I. Davydova, A. A. Lyalina, D. I. Grebenkin, E. A. Bakovich, I. V. Kanivets, D. S. Demyanov, I. S. Zhanin, A. A. Pushkov, K. V. Savostyanov |
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| Vol 14, No 1 (2024) |
Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns |
Abstract
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S. B. Artemyeva, O. A. Shidlovskaya, Yu. O. Papina, A. V. Monakhova, I. V. Shulyakova, E. D. Belousova, O. Yu. Germanenko, D. V. Vlodavets |
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| Vol 13, No 4 (2023) |
A clinical case of severe aromatic L-amino acid decarboxylase deficiency |
Abstract
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O. A. Shidlovskaya, S. B. Artemyeva, E. D. Belousova, Z. K. Gorchkhanova |
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| Vol 13, No 4 (2023) |
Glutaric aciduria type 1 – the mask cerebral palsy (case report) |
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D. V. I, G. E. Shcherbakov, V. A. Duplishcheva, S. A. Seregin, D. D. Gaynetdinova |
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| Vol 13, No 4 (2023) |
Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case |
Abstract
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S. B. Artemyeva, О. А. Shidlovskaya, Yu. О. Papina, А. V. Monakhova, I. V. Shulyakov, D. V. Vlodavets |
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| 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 |
Abstract
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T. V. Markova, V. V. Mavlyukeeva, B. G. Ginzburg, O. A. Shchagina, S. S. Nikitin, E. L. Dadali |
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| Vol 13, No 3 (2023) |
Methodology of botulinum therapy in the treatment of dystonic scoliosis in generalized dystonia (clinical case) |
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V. K. Misikov, A. P. Kovalenko, A. A. Kondur |
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| Vol 13, No 3 (2023) |
Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene |
Abstract
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I. V. Sharkova, S. S. Nikitin, T. V. Markova, A. E. Voskanyan, E. A. Melnik, O. A. Shchagina, E. L. Dadali |
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| Vol 13, No 2 (2023) |
Anti-SRP antibody-associated necrotizing myopathy: 2 clinical cases |
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F. A. Abbasov, G. V. Zemtsova, P. A. Popov, K. I. Chekhonatskaya, D. V. Kukhno, M. M. Severova, M. V. Shmyreva, A. A. Kindarova, D. Yu. Schekochikhin |
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| Vol 12, No 4 (2022) |
Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case |
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S. N. Bardakov, A. М. Emelin, S. S. Nikitin, A. N. Khelkovskaya-Sergeeva, I. S. Limaev, A. F. Murtazina, V. A. Tsargush, M. V. Gusev, Ya. V. Safronova, V. S. Kaimonov, A. A. Isaev, R. V. Deev |
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| Vol 12, No 4 (2022) |
Family case of aromatic L-amino acid decarboxylase deficiency |
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O. B. Kondakova, K. A. Kazakova, A. A. Lyalina, N. V. Lapshina, A. A. Pushkov, N. N. Mazanova, Yu. I. Davydova, D. I. Grebenkin, I. V. Kanivets, K. V. Savostyanov |
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| Vol 12, No 3 (2022) |
The first family case of spinocerebellar ataxia type 14 in Russia |
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E. P. Nuzhnyy, N. Yu. Abramycheva, S. A. Klyushnikov, S. N. Illarioshkin |
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| Vol 12, No 3 (2022) |
Juvenile amyotrophic lateral sclerosis type 4: case report and review |
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G. E. Rudenskaya, S. S. Nikitin, O. L. Shatokhina, O. A. Shchagina |
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| 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 |
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D. S. Kanshina, M. A. Surma, E. V. Badamshina, O. Yu. Bronov |
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| Vol 11, No 4 (2021) |
Ramsey Hunt syndrome in the child: case report and treatment approach |
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A. K. Shakaryan, I. V. Mitrofanova, S. V. Shakhgildyan |
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| Vol 11, No 3 (2021) |
New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case) |
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T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, M. Yu. Shorina, I. F. Demenshin, G. G. Prokopiev, I. V. Kanivets, V. S. Suchorukov, P. L. Anufriev, T. I. Baranich, A. A. Kozina, A. G. Prityko |
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| Vol 11, No 3 (2021) |
Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene |
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E. L. Dadali, T. V. Markova, O. P. Ryzhkova |
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| Vol 11, No 2 (2021) |
Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families |
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S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P. Vorontsova, D. I. Gribov, M. V. Zhivihina, A. N. Slatetskaya, R. V. Magzhanov, V. A. Samokhvalov, M. N. Virtseva, L. P. Borscheva, E. E. Koh, M. V. Novikova, A. V. Abrukova, E. Yu. Belyashova, N. Yu. Gerasimenko, L. V. Guseva, Zh. V. Yukhimenko, N. V. Nikitina, T. I. Belyaeva, T. A. Shkurko, N. A. Pichkur, V. S. Kakaulina, N. L. Pechatnikova, N . A. Polyakova, S. A. Korostelev, D. V. Pyankov, I. V. Kanivets, N. A. Demina, E. Yu. Pyrkova, G. V. Baidakova, M. V. Kurkina, E. Yu. Zakharova |
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| Vol 11, No 2 (2021) |
Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene |
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T. V. Markova, E. L. Dadali, S. S. Nikitin, A. F . Murtazina, O. L. Mironovich, I. V. Kanivets |
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| Vol 11, No 2 (2021) |
Miller Fisher syndrome developed after a previous COVID-19 infection (case report) |
Abstract
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V. A. Malko, P. V. Klimov, M. P. Topuzova, I. V. Yarush, K. V. Simakov, T. M. Alekseeva |
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| Vol 11, No 1 (2021) |
Dyke–Davidoff–Masson syndrome: description of clinical case with diagnostics by EEG, MRI, MR-tractography, fMRI |
Abstract
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I. S. Gumin, I. L. Gubskiy, M. B. Mironov, Yu. V. Rubleva, E. R. Moizykevich, S. G. Burd, V. G. Lelyuk |
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