Inna V. Sharkova

1 Moskvorechye St
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 27 publications

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.

Journal: Journal of neuromuscular diseases

Published: June 25, 2026

The Russian FSHD registry: a first look at the cohort.

The Russian FSHD registry: a first look at the cohort.

Journal: Human genetics

Published: April 16, 2026

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Journal: International journal of molecular sciences

Published: September 05, 2025

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Journal: International journal of molecular sciences

Published: December 21, 2024

Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain.

Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain.

Journal: Pain

Published: December 11, 2024

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Journal: Clinical genetics

Published: December 02, 2024

Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings.

Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings.

Journal: Clinical genetics

Published: September 20, 2024

Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.

Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.

Journal: Genes

Published: April 16, 2024

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene.

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene.

Journal: Frontiers in pediatrics

Published: April 08, 2024

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Journal: Gene

Published: November 27, 2023

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.

Journal: International journal of molecular sciences

Published: September 12, 2023

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.

Journal: Frontiers in pediatrics

Published: August 20, 2023

Showing 1-12 of 27

Last Updated: 09/26/2026