V
V P Fedotov
Researcher at John Wiley & Sons
Publications - 7
Citations - 789
V P Fedotov is an academic researcher from John Wiley & Sons. The author has contributed to research in topics: Gene & Muscle contracture. The author has an hindex of 4, co-authored 7 publications receiving 754 citations.
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Journal ArticleDOI
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Oleg V. Evgrafov,Irena Mersiyanova,Joy Irobi,Ludo Van Den Bosch,Ines Dierick,Conrad L. Leung,Olga Schagina,Nathalie Verpoorten,Katrien Van Impe,V P Fedotov,Elena L. Dadali,Michaela Auer-Grumbach,Christian Windpassinger,Klaus Wagner,Zoran Mitrović,David Hilton-Jones,Kevin Talbot,Jean-Jacques Martin,Natalia Vasserman,Svetlana Tverskaya,A. V. Polyakov,Ronald K.H. Liem,Jan Gettemans,Wim Robberecht,Peter De Jonghe,Vincent Timmerman +25 more
TL;DR: A missense mutation in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1, also called HSP27) that segregates in the family with CMT2F is reported and four additional missense mutations are identified.
Journal ArticleDOI
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Irina V. Mersiyanova,Sookhrat M. Ismailov,Alexandr Vladimirovich Polyakov,Elena L. Dadali,V P Fedotov,Eva Nelis,Ann Löfgren,Vincent Timmerman,Christine Van Broeckhoven,Oleg V. Evgrafov +9 more
TL;DR: A mutation screening in 174 unrelated CMT patients and three HNPP families of Russian origin found twelve distinct mutations in Cx32, six mutations in MPZ, and two mutations in PMP22, which lead to a CMT1 phenotype.
Journal ArticleDOI
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21
Shoukhrat M. Ismailov,V P Fedotov,Elena L. Dadali,Alexander V. Polyakov,Christine Van Broeckhoven,Vladimir I. Ivanov,Peter De Jonghe,Vincent Timmerman,Oleg V. Evgrafov +8 more
TL;DR: This study reports a multigenerational Russian family with autosomal dominant CMT2 and assigns the locus to chromosome 7q11-q21, which represents a novel genetic entity designated CMT 2F.
Journal ArticleDOI
Screening For Mutations In The Peripheral Myelin Genes PMP22, MPZ AND CX32 (GJB1) in Russian Charcot‐Marie‐Tooth Neuropathy Patients
Irina V. Mersiyanova,S.M. Ismailov,Alexander V. Polyakov,E.L. Dadali,V P Fedotov,E. Nelis,A. Lofgren,V. Timmerman,C Van Broeckhoven,O.V. Evgrafov +9 more
TL;DR: A mutation screening in 174 unrelated CMT patients and three HNPP families of Russian origin found twelve distinct mutations in Cx32, six mutations in MPZ, and two mutations in PMP22, which lead to a CMT1 phenotype.
Journal Article
[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A].
TL;DR: The characteristic symptoms of the LGMD type 2A disease were early contractures of ankle joints and pseudohypertrophy of gastrocnemius muscles and the major c.550delA mutation in the CAPN3 gene was identified in 70% of Russian patients.