A. V. Polyakov

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

Neurodegenerative Diseases, Molecular Neuroscience, Mitochondrial Function +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

Neurodegenerative Diseases, Neurological Disorder, Medicine +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

Mendelian Disorder, Genetic Disorder, New Variant +7

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

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

Immunohematology, X-linked Agammaglobulinemia, Autoimmune Disease +10