Concepedia

Irina Mersiyanova

IM

8

Publications

2.7K

Citations

8

H-Index

2000

Active since

Affiliations

Research Centre for Medical Genetics(Current)

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

University of Antwerp

Boston Children's Hospital

Pirogov Russian National Research Medical University

Irina Mersiyanova is an author at Research Centre for Medical Genetics specializing in medicine, neuropathology, and neurology.

ORCID

Top concepts

Publications per year

2000–2023

8

Publications

8

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.5K citations · Full text

, , +9

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi et al. · Nature Genetics · 2004 · 581 citations · Full text

, , +7

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

Irina Mersiyanova, Alexander V. Perepelov, A. V. Polyakov et al. · The American Journal of Human Genetics · 2000 · 416 citations · Full text

, , +7

Screening for mutations in the peripheral myelin genesPMP22,MPZ andCx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

Irina Mersiyanova, Sookhrat M. Ismailov, Alexandr V. Polyakov et al. · Human Mutation · 2000 · 88 citations

Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation

Irina Mersiyanova, Galina Ovsyannikova, Lili A. Hachatryan et al. · Pediatric Blood & Cancer · 2015 · 29 citations · Full text

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