Igor O. Bychkov

Moskvorechie St 1
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 29 publications

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

Journal: International journal of molecular sciences

Published: February 20, 2026

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.

Journal: Molecular medicine (Cambridge, Mass.)

Published: February 09, 2025

Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.

Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.

Journal: Epilepsia

Published: January 12, 2025

Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interference.

Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interference.

Journal: Frontiers in endocrinology

Published: November 09, 2024

A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH).

A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH).

Journal: Genes

Published: October 11, 2024

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients.

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients.

Journal: Human mutation

Published: June 11, 2024

Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.

Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.

Journal: Biomedicines

Published: November 23, 2023

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI.

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI.

Journal: Stem cell research

Published: September 18, 2023

Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.

Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.

Journal: Stem cell research

Published: April 14, 2023

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.

Journal: Human genetics

Published: January 24, 2023

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Journal: International journal of molecular sciences

Published: December 05, 2022

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Journal: NPJ genomic medicine

Published: November 14, 2022

Showing 1-12 of 29

Last Updated: 09/26/2026