| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 84 | 2022 |
| De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy F Tran Mau-Them, L Guibaud, L Duplomb, B Keren, K Lindstrom, I Marey, ... Genetics in Medicine 21 (4), 1008-1014, 2019 | 41 | 2019 |
| Новые международные классификации эпилепсий и эпилептических приступов Международной лиги по борьбе с эпилепсией (2017) ED Belousova, NN Zavadenko, AA Kholin, AA Sharkov Журнал неврологии и психиатрии им. CC Корсакова 117 (7), 99-106, 2017 | 34 | 2017 |
| New classifications of epilepsies and seizure types created by the International League against Epilepsy (2017) ED Belousova, NN Zavadenko, AA Kholin, AA Sharkov Zhurnal Nevrologii i Psikhiatrii Imeni SS Korsakova 117 (7), 99-106, 2017 | 10 | 2017 |
| Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia P Sparber, T Krylova, S Repina, N Demina, G Rudenskaya, I Sharkova, ... Parkinsonism & Related Disorders 84, 98-104, 2021 | 9 | 2021 |
| Hereditary diseases and syndromes accompanied by febrile convulsions: clinical and genetic characteristics and diagnostic procedures EL Dadali, AA Sharkov, IV Sharkova, IV Kanivets, FA Konovalov, ... Russian journal of child neurology 11 (2), 33-41, 2016 | 9 | 2016 |
| De novo missense variants in FBXO11 alter its protein expression and subcellular localization A Gregor, T Meerbrei, T Gerstner, A Toutain, SA Lynch, K Stals, C Maxton, ... Human molecular genetics 31 (3), 440-454, 2022 | 8 | 2022 |
| Genotype-phenotype comparison in POGZ-related neurodevelopmental disorders by using clinical scoring D Nagy, S Verheyen, KM Wigby, A Borovikov, A Sharkov, V Slegesky, ... Genes 13 (1), 154, 2022 | 8 | 2022 |
| Genetics and treatment of early infantile epileptic encephalopathies AA Sharkov, IV Sharkova, ED Belousova, EL Dadali Zhurnal Nevrologii i Psikhiatrii Imeni SS Korsakova 116 (9. Vyp. 2), 67-73, 2016 | 8 | 2016 |
| Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures A Bayat, M Pendziwiat, E Obersztyn, P Goldenberg, P Zacher, JH Döring, ... Frontiers in genetics 12, 663643, 2021 | 7 | 2021 |
| STXBP1 germline mutation and focal cortical dysplasia A Sharkov, O Dulac, S Gataullina Epileptic Disorders 23 (1), 143-147, 2021 | 6 | 2021 |
| Hereditary diseases and syndromes accompanied by febrile convulsions: clinical and genetic characteristics and methods of diagnosis AA Sharkov, IV Sharkova, IV Kanivec, FF Konovalov, IA Akimova Russian Journal of Child Neurology 11 (2), 33-41, 2016 | 4 | 2016 |
| Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy NA Semenova, EL Dadali, AA Sharkov, IA Akimova Neuromuscular Diseases 7 (3), 36-42, 2017 | 3 | 2017 |
| Epileptic spasms with terror during sleep in CDKL5 encephalopathy G Melikishvili, A Sharkov, T Gachechiladze, T Tomenko, A Pivovarova, ... Sleep Advances 3 (1), zpac010, 2022 | 2 | 2022 |
| Genetic epilepsy with febrile seizures plus (GEFS+) AA Sharkov Epilepsy and paroxysmal conditions 12 (1S), S50-S56, 2020 | 2 | 2020 |
| Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088) EL Dadali, IA Mishina, AO Borovikov, AA Sharkov, IV Kanivets Neuroscience and Behavioral Physiology 50, 1099-1104, 2020 | 1 | 2020 |
| Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients EL Dadali, FA Konovalov, IA Akimova, AA Sharkov, GE Rudenskaya, ... Neuromuscular Diseases 8 (2), 42-52, 2018 | 1 | 2018 |
| The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study A Borovikov, N Galeeva, A Marakhonov, A Murtazina, V Kadnikova, ... Human Mutation 2024, 2024 | | 2024 |
| Analysis of intronic and exonic variants in patients with DEPDC5-related epilepsy and correction of splicing using modified snRNAs E Osipova, I Bychkov, A Filatova, A Borovikov, A Sharkov, S Sharkova, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 195-196, 2024 | | 2024 |
| Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series A Murtazina, A Borovikov, A Marakhonov, A Sharkov, I Sharkova, ... Frontiers in Pediatrics 12, 2024 | | 2024 |
