E
Elena L. Dadali
Researcher at Russian National Research Medical University
Publications - 74
Citations - 2908
Elena L. Dadali is an academic researcher from Russian National Research Medical University. The author has contributed to research in topics: Medicine & Population. The author has an hindex of 8, co-authored 55 publications receiving 2612 citations. Previous affiliations of Elena L. Dadali include Russian Academy.
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Stephan Züchner,Stephan Züchner,Irina V. Mersiyanova,Maria Muglia,Nisrine Bissar-Tadmouri,Nisrine Bissar-Tadmouri,Julie M. Rochelle,Elena L. Dadali,Mario Zappia,Eva Nelis,Alessandra Patitucci,Jan Senderek,Yesim Parman,Oleg V. Evgrafov,Peter De Jonghe,Yuji Takahashi,Shoij Tsuji,Margaret A. Pericak-Vance,Aldo Quattrone,Esra Battologlu,Alexander V. Polyakov,Vincent Timmerman,J. Michael Schröder,Jeffery M. Vance +23 more
TL;DR: It is concluded that the primary gene mutated in CMT2A is MFN2, and seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A are concluded.
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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.
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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
Irina V. Mersiyanova,Alexander V. Perepelov,Alexander V. Polyakov,Vladimir F. Sitnikov,Elena L. Dadali,Roman B. Oparin,Alexander N. Petrin,Oleg Evgrafov +7 more
TL;DR: Screening of affected family members for mutations in the NF-L gene and in the tightly linked neurofilament-medium gene (NF-M) revealed the only DNA alteration linked with the disease: a A998C transversion in the first exon ofNF-L, which converts a conserved Gln333 amino acid to proline.
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.