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| Issue |
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| Vol 6, No 1 (2025) |
Rare malformations of the CNS. Schizencephaly |
Abstract
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Natalya V. Tkacheva, Zhuzhuna M. Tsotsonava, Vladimir V. Belopasov, Irina V. Soprunova |
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| Vol 4, No 3 (2023) |
Asymptomatic troponin I elevation and acute myocarditis in the late period of gene replacement therapy with onasemnogene aberpavovec for patients with spinal muscular atrophy: literature review and clinical case series |
Abstract
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Yuliya O. Papina, Svetlana B. Artemyeva, Olga S. Groznova, Inna V. Lukyanova, Evgeniya A. Melnik, Konstantin M. Tutelman, Dmitrii V. Vlodavets |
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| Vol 5, No 4 (2024) |
Clinical case of a patient with AADC deficiency of L-aromatic amino acid decarboxylase: diagnostic route and therapeutic options |
Abstract
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Evgenia V. Uvakina, Lyudmila M. Kuzenkova, Dmitry I. Gukosyan, Sofia G. Popovich, Tatyana V. Podkletnova, Anastasia A. Lyalina, Alexander A. Pushkov, Kirill V. Savostyanov, Yulia A. Kurova, Darya S. Nikolenko |
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| Vol 1, No 3 (2020) |
Noonan-like syndrome with loose anagen hair: three clinical cases |
Abstract
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Natalia V. Zhurkova, Klavdiya A. Kazakova, Mariya V. Vanichkina, Elena A. Kulebina, Andrey N. Surkov, Olga B. Kondakova, Evgeniya V. Uvakina, Aleksandr A. Pushkov, Kirill V. Savostyanov |
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| Vol 4, No 3 (2023) |
A clinical case of the Wada test in a patient with structural pharmacoresistant epilepsy |
Abstract
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Vadim O. Russkin, Alexandra A. Kuznetsova, Vladimir B. Solovyov, Aleksandr V. Levov, Inna O. Schederkina, Matvey I. Livshits |
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| Vol 1, No 4 (2020) |
Infantile parkinsonism-dystonia, type 1 (case report) |
Abstract
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Lyudmila M. Kuzenkova, Lale A. Pak, Olga B. Kondakova, Anastasia A. Lyalina, Polina G. Tsygankova, Ilya V. Kanivets, Dmitry I. Grebenkin, Natalia V. Lapshina |
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| Vol 4, No 3 (2023) |
SCN8A epileptic encephalopathy: literature review and own observation |
Abstract
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Dar`ya S. Nikolenko, Agata A. Zholudova, Oksana V. Globa, Lyudmila M. Kuzenkova, Kirill V. Savostyanov, Aleksandr A. Buksh |
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| Vol 1, No 4 (2020) |
Clinical experience of replacing enzyme replacement therapy in a patient with mucopolysaccharidosis type II |
Abstract
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Lyudmila M. Kuzenkova, Tatyana V. Podkletnova, Lale A. Pak, Oksana A. Ereshko |
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| Vol 4, No 3 (2023) |
Venous malformation as a rare cause of sciatic neuropathy |
Abstract
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Evgeniya S. Druzhinina, Igor V. Isaev, Fedor A. Kostylev, Anton G. Narbutov, Nikolay N. Zavadenko |
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| Vol 2, No 2 (2021) |
Unknown fatal encephalomyelopolyradiculoneuritis in a child. A case report |
Abstract
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Aleksandra I. Pavlyuchkova, Aleksey S. Kotov |
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| Vol 4, No 4 (2023) |
Juvenile amyotrophic lateral sclerosis caused by a mutation in the SPTLC2 gene: case presentation |
Abstract
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Luizat M. Abdullaeva, Alexey L. Kurenkov, Lyudmila M. Kuzenkova, Anastasiya A. Lyalina, Victoria A. Ioksha |
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| Vol 2, No 4 (2021) |
A clinical case of severe Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene in a girl |
Abstract
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Tatyana V. Podkletnova, Olga B. Kondakova, Eugeniya V. Uvakina, Dariya A. Fisenko, Anastasiya A. Lyalina, Sophiya G. Popovich, Lyudmila M. Kuzenkova, Aleksey L. Kurenkov, Lale A. Pak, Bella I. Bursagova |
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| Vol 4, No 4 (2023) |
Hypertrophic cardiomyopathy and lactic acidosis in a child with acyl-CoA dehydrogenase 9 deficiency. Review of the literature and clinical observation |
Abstract
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Leila A. Gandaeva, Elena N. Basargina, Yulia I. Davydova, Yulia S. Burykina, Irina V. Silnova, Alexander A. Pushkov, Kirill V. Savostyanov |
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| Vol 3, No 1 (2022) |
Creutzfeldt–Jakob disease: literature review and description of three clinical cases |
Abstract
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Anna A. Ershova, Alexey S. Kotov |
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| Vol 4, No 4 (2023) |
Application of cardiorespiratory training with biofeedback in a patient with comorbidity |
Abstract
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Elena V. Sakharova, Olga M. Konova |
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| Vol 3, No 2 (2022) |
Glutaric acidemia type 1 (clinical cases) |
Abstract
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Oksana V. Globa, Lyudmila M. Kuzenkova, Tatiana V. Bushueva, Aleksander A. Pushkov, Kirill V. Savost’Yanov, Anatoliy V. Anikin, Olga I. Zyrianova, Aleksander A. Buksh |
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| Vol 4, No 4 (2023) |
Epilepsy and EEG features in Angelman syndrome |
Abstract
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Zareta K. Gorchkhanova, Elena D. Belousova, Ekaterina A. Nikolaeva, Aleksandra M. Pivovarova |
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| Vol 3, No 2 (2022) |
A clinical case of successful management of a patient with Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene |
Abstract
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Tatyana V. Podkletnova, Lyudmila M. Kuzenkova, Alexey L. Kurenkov, Evgeniya V. Uvakina, Sofya G. Popovich, Anastasiya A. Lyalina |
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| Vol 5, No 1 (2024) |
Clinical case of management of a patient with Duchenne muscular dystrophy caused by deletion of exons 50–52 of the DMD gene against the background of pathogenetic therapy with viltolarsen |
Abstract
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Lyudmila M. Kuzenkova, Tatyana V. Podkletnova, Evgenia V. Uvakina, Sofia G. Popovich, Nataliya V. Andreenko |
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| Vol 3, No 3 (2022) |
A clinical case of POL3A-associated hypomyelinating leukodystrophy with spinal cord lesion with a debut in early childhood |
Abstract
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Sofia G. Popovich, Lyudmila M. Kuzenkova, Olga B. Kondakova, Alexey I. Firumyants, Tatyana V. Podkletnova, Eugeniya V. Uvakina |
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| Vol 5, No 1 (2024) |
The first description of a rare monogenic disease with polymicrogyria caused by a pathogenic variant in the gene WASF1 in monozygotic twins |
Abstract
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Olga B. Kondakova, Anastasia P. Gudkova, Dmitry I. Grebenkin, Semen V. Demyanov, Iuliia I. Davydova, Anastasia A. Lyalina, Ilya V. Kanivets, Ilya S. Zhanin, Alexander A. Pushkov, Kirill V. Savostyanov |
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| Vol 3, No 3 (2022) |
Subcortical band heterotopia: analysis of 5 cases |
Abstract
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Sviatlana L. Kulikova, Sergey A. Likhachev, Olga L. Zmachynskaya, Marina A. Siz |
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| Vol 5, No 1 (2024) |
Positive experience of nmDMD patient treatment |
Abstract
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Evgeniia V. Snegova, Nadezhda A. Oshchenkova, Irina B. Sosnina, Olga I. Glebovskaia |
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| Vol 3, No 3 (2022) |
Intraneural synovial cyst of the peroneal nerve: literature review and description of a clinical case |
Abstract
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Vladimir M. Kenis, Dmitriy V. Parshin, Andrey V. Sapogovskiy |
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| Vol 5, No 2 (2024) |
Sialorrhea in children with mucopolysaccharidosis type II (a review of several clinical cases) |
Abstract
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Alexey L. Kurenkov, Tatyana V. Podkletnova, Bella I. Bursagova |
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| Vol 3, No 4 (2022) |
A clinical case of a developmental disorder of the nervous system with involuntary movements associated with the spectrum of GNAO1-associated diseases |
Abstract
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Lyudmila M. Kuzenkova, Anastasiya A. Lyalina, Olga I. Zyryanova, Mariya A. Yarosh, Ilya V. Kanivets, Kirill V. Savostyanov |
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| Vol 5, No 2 (2024) |
The first experience of tele-primary vascular department to provide assistance to patients with ischemic stroke in the Krasnoyarsk territory |
Abstract
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Pavel G. Shnyakin, Natalya V. Khalo, Evgeniy A. Grigoriev, Anna O. Gavrilova |
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| Vol 3, No 4 (2022) |
Multifocal inflammatory levamisole-induced leukoencephalopathy in pediatric patient |
Abstract
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Oksana V. Globa, Lyudmila M. Kuzenkova, Alexey I. Firumyants, Luisa M. Abdullaeva |
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| Vol 5, No 3 (2024) |
Neuralgic amyotrophy in children: clinico-diagnostic features in 13 clinical cases |
Abstract
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Evgeniia S. Druzhinina, Dmitry S. Druzhinin, Julia V. Rogovskaya, Sergey A. Kurbatov, Nikolai N. Zavadenko |
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| Vol 4, No 2 (2023) |
Clinical case of Wieacker–Wolff syndrome in a 5-year girl |
Abstract
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Olga B. Kondakova, Ludmila M. Kuzenkova, Anastasia A. Lyalina, Alexandra A. Nezhelskaya, Yulia I. Davydova, Dmitry I. Grebenkin, Ilya S. Zhanin, Ekaterina A. Alekseeva, Ilya V. Kanivets, Alexander A. Pushkov |
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| Vol 5, No 3 (2024) |
The first experience in Russia of treating neurogenic cricopharyngeal dysphagia using intrasphincteric injection of botulinum toxin type A |
Abstract
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Ganipa R. Ramazanov, Pyotr A. Yartsev, Ella A. Kovaleva, Evgeniy V. Shevchenko, Yury S. Teterin, Aleksey V. Makarov, Khedi V. Korigova, Liana Kh.-B. Akhmatkhanova, Sergey S. Petrikov |
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| Vol 4, No 2 (2023) |
The debut and course of the neonatal form of propionic aciduria: a clinical case |
Abstract
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Angelina V. Sokolova, Tatiana V. Bushueva, Lyudmila M. Kuzenkova, Tatyana Е. Borovik, Oksana V. Globa, Tatyana V. Podkletnova, Anastasiya A. Lyalina, Alexander A. Pushkov, Nataliya N. Mazanova, Ekaterina Yu. Zakharovа, Khasyanya F. Aksyanova, Kirill V. Savostyanov, Madina M. Khamidova, Mariyam U. Khubieva |
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| Vol 5, No 4 (2024) |
Features of the genetic diagnosis of merosin-deficient muscular dystrophy (a clinical case) |
Abstract
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Anastasia V. Monakhova, Dmitry V. Vlodavets, Dmitry V. Kanivets |
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