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

por Semenova, Natalia A., Kurkina, Marina V., Marakhonov, Andrey V., Dadali, Elena L., Taran, Natalia N., Strokova, Tatyana V.
Publicado en 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

por Mersiyanova, Irina V., Perepelov, Alexander V., Polyakov, Alexander V., Sitnikov, Vladimir F., Dadali, Elena L., Oparin, Roman B., Petrin, Alexander N., Evgrafov, Oleg V.
Publicado 2000

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

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

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

por 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.
Publicado en BMC Med Genomics (2018)

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

por 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
Publicado en Front Neurol (2020)

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

por 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.
Publicado en Invest Ophthalmol Vis Sci (2020)

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

por 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
Publicado en Int J Mol Epidemiol Genet (2018)

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

por 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.
Publicado en Int J Mol Sci (2020)