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Е. Л. Дадали | doi.page

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Е. Л. Дадали

Research Centre for Medical Genetics(RU)

Publications by Year

Research Areas

Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Connective tissue disorders research, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders

Most-Cited Works

→ Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A(2004)1,546 cited
→ Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy(2004)581 cited
→ A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene(2000)417 cited
→ Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications(2021)140 cited
→ Screening for mutations in the peripheral myelin genesPMP22,MPZ andCx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients(2000)88 cited
→ A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21(2001)73 cited

→ Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy(2021)

44 cited

→ Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features(2020)35 cited

→ Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy(2020)27 cited

→ Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications(2021)23 cited