The First Russian Patient with Native American Myopathy

por Murtazina, Aysylu, Demina, Nina, Chausova, Polina, Shchagina, Olga, Borovikov, Artem, Dadali, Elena
Publicado 2022

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

por Chausova, Polina, Murtazina, Aysylu, Stepanova, Anna, Borovicov, Artem, Kovalskaia, Valeriia, Ryadninskaya, Nina, Chukhrova, Alena, Ryzhkova, Oxana, Poliakov, Aleksander
Publicado 2023

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

por Mikhalchuk, Kristina, Shchagina, Olga, Chukhrova, Alena, Zabnenkova, Viktoria, Chausova, Polina, Ryadninskaya, Nina, Vlodavets, Dmitry, Kutsev, Sergei I., Polyakov, Alexander
Publicado 2023

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

por Ionova, Sofya A., Murtazina, Aysylu F., Tebieva, Inna S., Getoeva, Zalina K., Dadali, Elena L., Chausova, Polina A., Shchagina, Olga A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2022