O. A. Schagina
Research Centre for Medical Genetics(RU)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Mitochondrial Function and Pathology, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy(2004)581 cited
- → MFN2Gene Analysis in Patients with Hereditary Motor and Sensory Neuropathy from Bashkortostan Republic(2013)7 cited
- → HTT Gene Premutation Allele Frequencies in the Russian Federation(2018)6 cited
- → Identification of a novel mutation in DKC1 in dyskeratosis congenita(2008)4 cited
- → Complex Molecular Diagnostics of Hemophilia A in Russian Patients(2019)3 cited
- → X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation(2019)2 cited
- → MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic(2013)2 cited
- → Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene(2019)2 cited
- → Deletions in AZFc Region of Y Chromosome in Russian Fertile Men(2022)2 cited
- → Klinefelter syndrome in a patient with double Y-autosomal translocation(2024)