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Шаркова Инна Валентиновна

Observed names: I V Sharkova, I. V. Sharkova, I.V. Sharkova, Inna Sharkova, Inna V. Sharkova, И. В. Шаркова
ORCID: 0000-0002-5819-4835
Observed ORCID: 0000-0002-5819-4835
OpenAlex ID: A5048634617
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum
2018 · Andrey V. Marakhonov, Vyacheslav Yu. Tabakov, et al. · Gene · 20
Genetic and Clinical Spectrum of GNE Myopathy in Russia
2022 · Aysylu Murtazina, Sergey Nikitin, et al. · Genes · 14
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Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia
2021 · Peter Sparber, Tatiana Krylova, et al. · Parkinsonism & Related Disorders · 11
Genetics and treatment of early infantile epileptic encephalopathies
2016 · A. A. Sharkov, I. V. Sharkova, et al. · S S Korsakov Journal of Neurology and Psychiatry · 11
SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1
2015 · V. V. Zabnenkova, E. L. Dadali, et al. · Russian Journal of Genetics · 11
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing
2018 · Peter Sparber, Andrey Marakhonov, et al. · Neurogenetics · 9
Hereditary Diseases and Syndromes Accompanied by Febrile Convulsions: Clinical and Genetic Characteristics and Diagnostic Procedures
2016 · E. L. Dadali, A. A. Sharkov, et al. · Russian Journal of Child Neurology · 9
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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
2022 · Margarita Sharova, Mikhail Skoblov, et al. · Frontiers in Neurology · 6
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Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene
2019 · A. O. Borovikov, I. V. Sharkova, et al. · Neuromuscular Diseases · 5
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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
2017 · E. L. Dadali, S. S. Nikitin, et al. · Neuromuscular Diseases · 5
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Rare Cause 5q SMA : Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus
2025 · Kristina Mikhalchuk, Viktoria Zabnenkova, et al. · Clinical Genetics · 4
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Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series
2024 · Aysylu Murtazina, Artem Borovikov, et al. · Frontiers in Pediatrics · 4
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[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X].
2012 · I V Sharkova, T B Milovidova, et al. · PubMed · 4
Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy
2015 · I. V. Sharkova, E. L. Dadali, et al. · Neuromuscular Diseases · 3
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Точковые мутации в генеSMN1у больных проксимальной спинальной мышечной атрофией I–IV типа, имеющих одну копию генаSMN1
2015 · В. В. Забненкова, Е. Л. Дадали, et al. · Генетика · 3
Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain
2025 · Peter Sparber, Nikolai Zernov, et al. · Pain · 2
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation
2025 · Polina Chausova, Tatiana Cherevatova, et al. · International Journal of Molecular Sciences · 2
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Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings
2024 · Inna Sharkova, Artem Borovikov, et al. · Clinical Genetics · 2
Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene
2024 · Sergey Nikitin, Evgeniya Melnik, et al. · Frontiers in Pediatrics · 2
Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
2024 · Fatima M. Bostanova, Polina G. Tsygankova, et al. · Genes · 2
Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients
2019 · E. L. Dadali, I. V. Sharkova, et al. · Neuromuscular Diseases · 2
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New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
2016 · E. L. Dadali, I. V. Sharkova, et al. · Neuromuscular Diseases · 2
The Russian FSHD registry: a first look at the cohort
2026 · Anna Kuchina, Darya Sherstyukova, et al. · Human Genetics · 1
Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases
2025 · Ekaterina O. Vorontsova, Aysylu Murtazina, et al. · International Journal of Molecular Sciences · 1
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Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
2024 · Maria Bulakh, Daria Polyakova, et al. · Gene · 1
Works count: 57
Citation count: 141
H-index: 7
I10-index: 5
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