Anna S. Kuchina
Moscow, MOW, Russian Federation
Last Updated: 09/26/2026
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Found 12 publications
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.
Journal: Journal of neuromuscular diseases
Published: June 25, 2026
The Russian FSHD registry: a first look at the cohort.
Journal: Human genetics
Published: April 16, 2026
Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders.
Journal: Frontiers in genetics
Published: September 05, 2025
A comprehensive framework for the interpretation of TTN missense variants.
Journal: Genome medicine
Published: July 17, 2025
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Journal: Clinical genetics
Published: December 02, 2024
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.
Journal: Frontiers in genetics
Published: April 09, 2024
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Journal: International journal of molecular sciences
Published: November 26, 2023
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.
Journal: Journal of personalized medicine
Published: August 31, 2023
A case of spastic paraplegia with SPG4 and SPG3 associated mutations
Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: June 14, 2023
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Last Updated: 09/26/2026