Dmitrii Subbotin

Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 11 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

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

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

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal: Journal of medical genetics

Published: March 19, 2025

Unexpected SLC34A3 rickets in a case of suspected distal myopathy.

Unexpected SLC34A3 rickets in a case of suspected distal myopathy.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 03, 2025

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.

Journal: Frontiers in genetics

Published: October 14, 2024

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene.

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene.

Journal: International journal of molecular sciences

Published: September 04, 2024

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series.

Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series.

Journal: Frontiers in genetics

Published: April 09, 2024

Showing 1-11 of 11

Last Updated: 09/26/2026