Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury

por Deev, Roman V., Bardakov, Sergei N., Mavlikeev, Mikhail O., Yakovlev, Ivan A., Umakhanova, Zoya R., Akhmedova, Patimat G., Magomedova, Raisat M., Chekmaryeva, Irina A., Dalgatov, Gimat D., Isaev, Artur A.
Publicado 2017

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan

por Umakhanova, Zoya R., Bardakov, Sergei N., Mavlikeev, Mikhail O., Chernova, Olga N., Magomedova, Raisat M., Akhmedova, Patimat G., Yakovlev, Ivan A., Dalgatov, Gimat D., Fedotov, Valerii P., Isaev, Artur A., Deev, Roman V.
Publicado 2017

Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan

por Umakhanova, Zoya R., Bardakov, Sergey N., Mavlikeev, Mikhail O., Chernova, Olga N., Magomedova, Raisat M., Akhmedova, Patimat G., Yakovlev, Ivan A., Dalgatov, Gimat D., Fedotov, Valerii P., Isaev, Artur A., Deev, Roman V.
Publicado 2017

Magnetic resonance imaging pattern variability in dysferlinopathy

por Bardakov, Sergey N., Tsargush, Vadim A., Carlier, Pierre G., Nikitin, Sergey S., Kurbatov, Sergey A., Titova, Angelina A., Umakhanova, Zoya R., Akhmedova, Patimat G., Magomedova, Raisat M., Zheleznyak, Igor S., Emelyantsev, Alexander A., Berezhnaya, Ekaterina N., A.Yakovlev, Ivan, Isaev, Artur A., Deev, Roman V.
Publicado 2021

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene

por Bardakov, Sergey N., Deev, Roman V., Magomedova, Raisat M., Umakhanova, Zoya R., Allamand, Valérie, Gartioux, Corine, Zulfugarov, Kamil Z., Akhmedova, Patimat G., Tsargush, Vadim A., Titova, Angelina A., Mavlikeev, Mikhail O., Zorin, Vadim L., Chernets, Ekaterina N., Dalgatov, Gimat D., Konovalov, Fedor A., Isaev, Artur A.
Publicado 2021

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

por Bardakov, Sergey N., Deev, Roman V., Isaev, Аrtur А., Khromov‐Borisov, Nikita N., Kopylov, Evgeniy D., Savchuk, Мaria R., Pushkin, Maxim S., Presnyakov, Evgeniy V., Magomedova, Raisat M., Achmedova, Patimat G., Umakhanova, Zoya R., Kaimonov, Vladimir S., Musatova, Elizaveta V., Blagodatskikh, Konstantin А., Tveleneva, Aleksandra А., Sofronova, Yana V., Yakovlev, Ivan A.
Publicado 2023