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Year | Number of Results |
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2018 | 2 |
2021 | 1 |
2022 | 2 |
2023 | 1 |
2024 | 1 |
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Page 1
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991.
Genes (Basel). 2022.
PMID: 36360228
Free PMC article.
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M.
Sparber P, et al. Among authors: sharkova i.
Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9.
Parkinsonism Relat Disord. 2021.
PMID: 33607528
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Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.
Murtazina A, Borovikov A, Marakhonov A, Sharkov A, Sharkova I, Mirzoyan A, Kulikova S, Ganieva R, Zabnenkova V, Ryzhkova O, Nikitin S, Dadali E, Kutsev S.
Murtazina A, et al. Among authors: sharkova i.
Front Pediatr. 2024 Jan 18;12:1280394. doi: 10.3389/fped.2024.1280394. eCollection 2024.
Front Pediatr. 2024.
PMID: 38304750
Free PMC article.
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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.
Shatokhina O, Kovalskaia V, Sparber P, Sharkova I, Mishina I, Kuznetsova V, Ryzhkova O.
Shatokhina O, et al. Among authors: sharkova i.
Int J Mol Sci. 2023 Oct 25;24(21):15572. doi: 10.3390/ijms242115572.
Int J Mol Sci. 2023.
PMID: 37958557
Free PMC article.
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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.
Sharova M, Skoblov M, Dadali E, Demina N, Shchagina O, Konovalov F, Ampleeva M, Sharkova I, Kutsev S.
Sharova M, et al. Among authors: sharkova i.
Front Neurol. 2022 Nov 8;13:1008937. doi: 10.3389/fneur.2022.1008937. eCollection 2022.
Front Neurol. 2022.
PMID: 36425804
Free PMC article.
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Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.
Sparber P, Marakhonov A, Filatova A, Sharkova I, Skoblov M.
Sparber P, et al. Among authors: sharkova i.
Neurogenetics. 2018 Dec;19(4):257-260. doi: 10.1007/s10048-018-0558-4. Epub 2018 Nov 3.
Neurogenetics. 2018.
PMID: 30392167
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Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY.
Marakhonov AV, et al. Among authors: sharkova iv.
Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9.
Gene. 2018.
PMID: 29894794
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