Zobrazeno 1 - 10
of 181
pro vyhledávání: '"DYSF"'
Autor:
Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia
Publikováno v:
BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-11 (2024)
Abstract Background Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits. The clinical symptoms of LGMD typically appear in adolescence
Externí odkaz:
https://doaj.org/article/8f548777472647cfb5bf30df13f1a719
Autor:
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev
Publikováno v:
BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-8 (2024)
Abstract Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported
Externí odkaz:
https://doaj.org/article/33b3ec8b75d34bd1862d731412b97b9a
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf sw
Externí odkaz:
https://doaj.org/article/30f447ae512d4c4396c23d6131768fee
Autor:
M. V. Korokin, E. V. Kuzubova, A. I. Radchenko, R. V. Deev, I. A. Yakovlev, A. V. Deikin, N. S. Zhunusov, A. M. Krayushkina, V. M. Pokrovsky, O. A. Puchenkova, K. D. Chaprov, N. V. Ekimova, S. N. Bardakov, O. N. Chernova, A. M. Emelin, I. S. Limaev
Publikováno v:
Фармация и фармакология (Пятигорск), Vol 10, Iss 5, Pp 483-496 (2022)
The aim of the work was behavioral and pathomorphological phenotyping of the mice knockout for the DYSF gene, which plays an important role in the development and progression of dysferlinopathy.Materials and methods. A B6.A-Dysfprmd/GeneJ (Bla/J) mic
Externí odkaz:
https://doaj.org/article/d38a67d29fb84df8b4112fa10beab58d
Autor:
S. N. Bardakov, A. М. Emelin, S. S. Nikitin, A. N. Khelkovskaya-Sergeeva, I. S. Limaev, A. F. Murtazina, V. A. Tsargush, M. V. Gusev, Ya. V. Safronova, V. S. Kaimonov, A. A. Isaev, R. V. Deev
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 73-87 (2022)
Differential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary inflammatory process is a time‑consuming clinical and pathomorphological task. In particular, false diagnosis of polymyositis in patie
Externí odkaz:
https://doaj.org/article/b2e69f02488b40eaa34fb3cd3cd8b162
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
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene. Meanwhile, this woman is
Externí odkaz:
https://doaj.org/article/54161ee645b44467803e3a2107452d99
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