Aysylu Murtazina

21PUBLICATIONS
86CO-AUTHORS
Respiratory diseasesMedical virologyNeurology and neuromuscular diseasesNeonatologyInfant and child health
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (21)

|Aug 08, 2026
The Russian FSHD registry: a first look at the cohort.

|Jun 12, 2026
A Rare Clinical Presentation of Variegate Porphyria.

|Jun 05, 2026
FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family-Based Genome Sequencing.

|May 04, 2026
Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

|Apr 21, 2026
Missense mutation causes multiple defects in Nav1.4 channel gating and leads to an SCN4A-associated overlap phenotype.

|Mar 27, 2026
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.

Dmitrii Subbotin, Daria Akimova, Elena Dadali

Pageof 4

Frequent Collaborators

12 joint publications

Artem O Borovikov

11 joint publications

Olga Shchagina

6 joint publications

Oxana Ryzhkova

5 joint publications

Andrey V Marakhonov