Svetlana Tverskaya

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

Nijmegen breakage syndrome: Clinical characteristics and mutation analysis in eight unrelated Russian families

Igor Resnick, Irina Kondratenko, Oleg Togoev et al. · The Journal of Pediatrics · 2002 · 74 citations

Mendelian Disorder, Unrelated Russian Families, Genetic Disorder +8

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

E. A. Bliznetz, Svetlana Tverskaya, Anna V. Abrukova et al. · European Journal of Human Genetics · 2009 · 43 citations · Full text

Genetic Analysis, Tcirg1 Gene Spread, Genetic Disorder +7

657del5 mutation in the gene for Nijmegen breakage syndrome (<i>NBS1</i>) in a cohort of Russian children with lymphoid tissue malignancies and controls

Igor Resnick, Irina Kondratenko, Eugeni Pashanov et al. · American Journal of Medical Genetics Part A · 2003 · 36 citations