Concepedia

A. V. Polyakov

AV

Statistics

Publications

42

Citations

3.8K

H-Index

18

Active since

1993

Affiliations

Research Centre for Medical Genetics(Current)

Research Institute of Medical Genetics of Russian Academy of Medical Sciences

Ministry of Health of the Russian Federation

Russian Academy of Sciences

Pirogov Russian National Research Medical University

A. V. Polyakov is an author at Research Centre for Medical Genetics specializing in genetics, medical genetics, and life sciences.

ORCID

Publications per year

1993–2024

42

Publications

42

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 · 1.6K citations · Full text

, , +11

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 · 584 citations · Full text

, , +14

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 · 420 citations · Full text

, , +10

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

, , +8

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study

Beáta Tóth, Alexander Mihas, Ewa Bernatowska et al. · Molecular Immunology · 2009 · 67 citations · Full text

, , +17

1–5 of 42