Sergey S. Nikitin

1 Moskvorechye St
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 16 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

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.

Journal: BMC pediatrics

Published: January 02, 2026

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.

Journal: Frontiers in molecular biosciences

Published: November 13, 2025

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

Journal: Neuropathology and applied neurobiology

Published: February 24, 2025

Oxygen Nonstoichiometry, Electrical Conductivity, Chemical Expansion and Electrode Properties of Perovskite-Type SrFe0.9V0.1O3-δ.

Oxygen Nonstoichiometry, Electrical Conductivity, Chemical Expansion and Electrode Properties of Perovskite-Type SrFe0.9V0.1O3-δ.

Journal: Materials (Basel, Switzerland)

Published: September 19, 2024

Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.

Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.

Journal: Frontiers in genetics

Published: August 07, 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

The effect of temperature and oxygen partial pressure on the concentration of iron and manganese ions in La1/3Sr2/3Fe1-xMnxO3-δ.

The effect of temperature and oxygen partial pressure on the concentration of iron and manganese ions in La1/3Sr2/3Fe1-xMnxO3-δ.

Journal: Physical chemistry chemical physics : PCCP

Published: December 15, 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

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.

Journal: BMC musculoskeletal disorders

Published: March 09, 2023

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Journal: Genes

Published: September 13, 2022

Structural Features and Defect Equilibrium in Cubic PrBa1-xSrxFe2O6-δ.

Structural Features and Defect Equilibrium in Cubic PrBa1-xSrxFe2O6-δ.

Journal: Materials (Basel, Switzerland)

Published: May 30, 2022

Showing 1-12 of 16

Last Updated: 09/26/2026