Svetlana V. Mikhaylova

Moscow, MOW 115478, Russian Federation

Last Updated: 09/26/2026

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Found 13 publications

Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.

Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.

Journal: International journal of molecular sciences

Published: May 30, 2026

Frameless intraputaminal delivery of gene therapy with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase deficiency: safe and efficient results.

Frameless intraputaminal delivery of gene therapy with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase deficiency: safe and efficient results.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: April 01, 2025

Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective.

Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective.

Journal: International journal of molecular sciences

Published: March 31, 2025

Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.

Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.

Journal: Frontiers in medicine

Published: February 22, 2025

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Journal: Frontiers in molecular biosciences

Published: September 26, 2021

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.

Journal: Frontiers in molecular biosciences

Published: September 20, 2021

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Journal: Frontiers in neurology

Published: August 20, 2021

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Journal: Mitochondrion

Published: July 14, 2020

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

Journal: Molecular genetics and metabolism

Published: March 04, 2019

Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

Journal: Journal of inherited metabolic disease

Published: August 05, 2018

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Journal: JIMD reports

Published: June 29, 2018

High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency

High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency

Journal: Biomeditsinskaia khimiia

Published: September 02, 2017

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Last Updated: 09/26/2026