Aysylu F. Murtazina

1 Moskvorechie St, 115522
Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 40 publications

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Journal: Journal of neuromuscular diseases

Published: July 28, 2026

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

FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family-Based Genome Sequencing.

FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family-Based Genome Sequencing.

Journal: American journal of medical genetics. Part A

Published: April 08, 2026

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

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Journal: Brain : a journal of neurology

Published: February 10, 2026

PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.

PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.

Journal: Molecular genetics & genomic medicine

Published: January 01, 2026

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.

Journal: Genes

Published: October 27, 2025

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

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders.

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders.

Journal: Frontiers in genetics

Published: September 05, 2025

Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene.

Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene.

Journal: Genes

Published: August 12, 2025

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.

Journal: Frontiers in genetics

Published: July 21, 2025

Showing 1-12 of 40

Last Updated: 09/26/2026