Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Raisat M. Magomedova"'
Autor:
Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists. However, the frequency of endemic mutations in most isolates has not be
Externí odkaz:
https://doaj.org/article/293d70115cc14046b98306c7af3f8ccc
Autor:
Roman V. Deev, Sergei N. Bardakov, Mikhail O. Mavlikeev, Ivan A. Yakovlev, Zoya R. Umakhanova, Patimat G. Akhmedova, Raisat M. Magomedova, Irina A. Chekmaryeva, Gimat D. Dalgatov, Artur A. Isaev
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
Plectinopathies are orphan diseases caused by PLEC gene mutations. PLEC is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with
Externí odkaz:
https://doaj.org/article/3104ec04cb774ed689a171829c28065b
Autor:
Vadim A. Tsargush, Roman V. Deev, Angelina Titova, V.L. Zorin, Patimat G. Akhmedova, Isaev Artur Aleksandrovich, M O Mavlikeev, C. Gartioux, Sergey N. Bardakov, Raisat M. Magomedova, Fedor A. Konovalov, Valérie Allamand, Zoya R. Umakhanova, Ekaterina N. Chernets, Gimat D. Dalgatov, Kamil Z. Zulfugarov
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2020, pp.1-12. ⟨10.3233/JND-200476⟩
Journal of Neuromuscular Diseases, IOS Press, 2020, pp.1-12. ⟨10.3233/JND-200476⟩
International audience; A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months old and 2.5 years old) demonstrating significant phenotypic variability ranging from intermediate to the myosclerotic like Be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2f1397fdf700dced3ab8143a7c49f6
http://europepmc.org/articles/PMC8075389
http://europepmc.org/articles/PMC8075389
Autor:
Sergey N, Bardakov, Vadim A, Tsargush, Pierre G, Carlier, Sergey S, Nikitin, Sergey A, Kurbatov, Angelina A, Titova, Zoya R, Umakhanova, Patimat G, Akhmedova, Raisat M, Magomedova, Igor S, Zheleznyak, Alexander A, Emelyantsev, Ekaterina N, Berezhnaya, Ivan, A Yakovlev, Artur A, Isaev, Roman V, Deev
Publikováno v:
Acta Myologica
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cac65c3e0baec8f89ba370b49b293eef
https://pubmed.ncbi.nlm.nih.gov/35047756
https://pubmed.ncbi.nlm.nih.gov/35047756
Autor:
R. V. Deev, Olga N. Chernova, Patimat G. Akhmedova, Isaev Artur Aleksandrovich, Gimat D. Dalgatov, Ivan A. Yakovlev, Zoya R. Umakhanova, Raisat M. Magomedova, Sergey N. Bardakov, Valerii P. Fedotov, M O Mavlikeev
Publikováno v:
Frontiers in Neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da8ed59cc64a2bf8e0e19bfa0460fa7
Autor:
Gimat D. Dalgatov, Valerii P. Fedotov, S. N. Bardakov, Zoya R. Umakhanova, Olga N. Chernova, Isaev Artur Aleksandrovich, R. V. Deev, Ivan A. Yakovlev, Raisat M. Magomedova, Patimat G. Akhmedova, M O Mavlikeev
Publikováno v:
Frontiers in Neurology
To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a83a55fccfb4db0b2922caca687bea
http://europepmc.org/articles/PMC5340769
http://europepmc.org/articles/PMC5340769