| The role of long non-coding RNAs in the pathogenesis of hereditary diseases P Sparber, A Filatova, M Khantemirova, M Skoblov BMC medical genomics 12, 63-78, 2019 | 60 | 2019 |
| Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament … AV Marakhonov, A Brodehl, RP Myasnikov, PA Sparber, AV Kiseleva, ... Human Mutation 40 (6), 734-741, 2019 | 30 | 2019 |
| Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome P Sparber, A Filatova, I Anisimova, T Markova, V Voinova, A Chuhrova, ... European Journal of Medical Genetics 63 (12), 104088, 2020 | 11 | 2020 |
| 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 |
| 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 |
| Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene T Markova, P Sparber, A Borovikov, T Nagornova, E Dadali Molecular Genetics & Genomic Medicine 9 (3), e1620, 2021 | 7 | 2021 |
| Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing P Sparber, A Marakhonov, A Filatova, I Sharkova, M Skoblov neurogenetics 19 (4), 257-260, 2018 | 7 | 2018 |
| Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report P Sparber, M Sharova, A Filatova, O Shchagina, E Ivanova, E Dadali, ... BMC Medical Genetics 21, 1-5, 2020 | 5 | 2020 |
| Genetic and clinical spectrum of GNE myopathy in Russia A Murtazina, S Nikitin, G Rudenskaya, I Sharkova, A Borovikov, P Sparber, ... Genes 13 (11), 1991, 2022 | 4 | 2022 |
| Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion P Sparber, I Bychkov, D Pyankov, M Skoblov Human Genetics 142 (8), 1043-1053, 2023 | 3 | 2023 |
| Investigation of LINC00493/SMIM26 gene suggests its dual functioning at mRNA and protein level D Konina, P Sparber, I Viakhireva, A Filatova, M Skoblov International Journal of Molecular Sciences 22 (16), 8477, 2021 | 3 | 2021 |
| Specificities of the DMD Gene Mutation Spectrum in Russian Patients E Zinina, M Bulakh, A Chukhrova, O Ryzhkova, P Sparber, O Shchagina, ... International Journal of Molecular Sciences 23 (21), 12710, 2022 | 2 | 2022 |
| GABRA1‐Related Disorders: From Genetic to Functional Pathways E Musto, VWY Liao, KM Johannesen, CD Fenger, D Lederer, K Kothur, ... Annals of Neurology 95 (1), 27-41, 2024 | 1 | 2024 |
| Case report: Functional investigation of an undescribed missense variant affecting splicing in a patient with Dravet syndrome P Sparber, S Mikhaylova, V Galkina, Y Itkis, M Skoblov Frontiers in Neurology 12, 761892, 2021 | 1 | 2021 |
| Autosomal dominant spastic paraplegias GE Rudenskaya, VA Kadnikova, LA Bessonova, PA Sparber, SA Kurbatov, ... Zhurnal Nevrologii i Psikhiatrii Imeni SS Korsakova 121 (5), 75-87, 2021 | 1 | 2021 |
| Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia AF Murtazina, OA Shchagina, TB Milovidova, EL Dadali, GE Rudenskaya, ... Neuromuscular Diseases 10 (2), 39-45, 2020 | 1 | 2020 |
| Long noncoding RNAs are a promising therapeutic target in various diseases AY Filatova, PA Sparber, IA Krivosheeva, MY Skoblov Bulletin of Russian State Medical University, 5-16, 2017 | 1 | 2017 |
| Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing P Sparber, M Sharova, K Davydenko, D Pyankov, A Filatova, M Skoblov Brain 147 (4), 1278-1293, 2024 | | 2024 |
| Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration V Iankova, P Sparber, M Rohani, P Dusek, B Büchner, I Karin, ... Brain 147 (4), 1389-1398, 2024 | | 2024 |
| 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 |
Mikle SkoblovResearch Centre for Medical GeneticsVerified email at generesearch.ru
