A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

著者: Semenova, Natalia A., Kurkina, Marina V., Marakhonov, Andrey V., Dadali, Elena L., Taran, Natalia N., Strokova, Tatyana V.
出版年 Mol Genet Metab Rep (2021)

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

著者: Mersiyanova, Irina V., Perepelov, Alexander V., Polyakov, Alexander V., Sitnikov, Vladimir F., Dadali, Elena L., Oparin, Roman B., Petrin, Alexander N., Evgrafov, Oleg V.
出版事項 2000

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

著者: Rudenskaya, Galina E., Marakhonov, Andrey V., Shchagina, Olga A., Lozier, Ekaterina R., Dadali, Elena L., Akimova, Irina A., Petrova, Nika V., Konovalov, Fedor A.
出版年 J Pediatr Genet (2019)

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

著者: Marakhonov, Andrey V., Konovalov, Fedor A., Makaov, Amin Kh., Vasilyeva, Tatyana A., Kadyshev, Vitaly V., Galkina, Varvara A., Dadali, Elena L., Kutsev, Sergey I., Zinchenko, Rena A.
出版年 BMC Med Genomics (2018)

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

著者: Altamura, Concetta, Ivanova, Evgeniya A., Imbrici, Paola, Conte, Elena, Camerino, Giulia Maria, Dadali, Elena L., Polyakov, Alexander V., Kurbatov, Sergei Aleksandrovich, Girolamo, Francesco, Carratù, Maria Rosaria, Desaphy, Jean-François
出版年 Front Neurol (2020)

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

著者: Shurygina, Maria F., Simonett, Joseph M., Parker, Maria A., Mitchell, Amanda, Grigorian, Florin, Lifton, Jacob, Nagiel, Aaron, Shpak, Alexander A., Dadali, Elena L., Mishina, Irina A., Weleber, Richard G., Yang, Paul, Pennesi, Mark E.
出版年 Invest Ophthalmol Vis Sci (2020)

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic

著者: Zinchenko, Rena A, Kadyshev, Vitaly V, El’chinova, Galina I, Marakhonov, Andrey V, Galkina, Varvara A, Dadali, Elena L, Khlebnikova, Olga V, Mikhailova, Lyudmila K, Petrova, Nika V, Petrina, Nina E, Vasilyeva, Tatyana A, Gundorova, Polina, Tanas, Alexander S, Strelnikov, Vladimir V, Polyakov, Alexander V, Ginter, Eugeny K
出版年 Int J Mol Epidemiol Genet (2018)

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

著者: Zinchenko, Rena A., Makaov, Amin Kh., Marakhonov, Andrey V., Galkina, Varvara A., Kadyshev, Vitaly V., El’chinova, Galina I., Dadali, Elena L., Mikhailova, Lyudmila K., Petrova, Nika V., Petrina, Nina E., Vasilyeva, Tatyana A., Gundorova, Polina, Polyakov, Alexander V., Alexandrova, Oksana Y., Kutsev, Sergey I., Ginter, Eugeny K.
出版年 Int J Mol Sci (2020)