Zobrazeno 1 - 10
of 105
pro vyhledávání: '"SEPN1"'
Autor:
E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, N. C. Voermans, Nicol C. Voermans
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy
Externí odkaz:
https://doaj.org/article/e37f4d0091164ff29b157e0a38585486
Akademický článek
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Autor:
Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
Abstract Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mut
Externí odkaz:
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d
Autor:
Yanbin Fan, Zhifei Xu, Xing Li, Feng Gao, Enyu Guo, Xingzhi Chang, Cuijie Wei, Cheng Zhang, Qing Yu, Chengli Que, Jiangxi Xiao, Chuanzhu Yan, Zhaoxia Wang, Yun Yuan, Hui Xiong
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Congenital muscular dystrophy with early rigid spine, also known as the rigid spine with muscular dystrophy type 1 (RSMD1), is caused by SEPN1 mutation. We investigated the clinical manifestations, pathological features, and genetic characteristics o
Externí odkaz:
https://doaj.org/article/013f367e54c041e3a4552cf9becf0978
Akademický článek
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Autor:
Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms an
Externí odkaz:
https://doaj.org/article/7593d22789924083853db7eb1e556856
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 7, Iss 2, Pp 51-54 (2017)
Description of clinical features of the disease in a 4-year-old boywith rigid spine syndrome is presented. Molecular genetic analysisrevealed in this patient an unknown homozygous mutation988delC in the SEPN1 gene (coding for selenoprotein N). Incont
Externí odkaz:
https://doaj.org/article/bd8b30a51e5a422291565599fa8e7c18
Autor:
Ester Zito, Ana Ferreiro
Publikováno v:
Cells, Vol 10, Iss 5, p 1116 (2021)
Selenoprotein N (SEPN1) is a type II glycoprotein of the endoplasmic reticulum (ER) that senses calcium levels to tune the activity of the sarcoplasmic reticulum calcium pump (SERCA pump) through a redox-mediated mechanism, modulating ER calcium home
Externí odkaz:
https://doaj.org/article/3220fb6433cb4d78bc03dd50074e0305
Autor:
Jos M. T. Draaisma, Jonne Doorduin, Nicol C. Voermans, Florence H J van Tienen, Hubert J.M. Smeets, Baziel G.M. van Engelen, Jan A.M. Smeitink, Nens van Alfen, Saskia Koene, Benno Küsters, Willem C M van Tilburg, Mirian C. H. Janssen, Floris E A Udink Ten Cate, Corrie E. Erasmus, Robin Nijveldt, Anne T. M. Dittrich, Karlijn Bouman, Frederik M. A. van den Heuvel, Jan T. Groothuis, Stan Buckens, Esmee S.B. Van Kleef, Erik-Jan Kamsteeg
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
BMC Neurology, 21
BMC Neurology
BMC Neurology, 21, 1
BMC Neurology, 21(1):313. BioMed Central Ltd
BMC Neurology, 21
BMC Neurology
BMC Neurology, 21, 1
BMC Neurology, 21(1):313. BioMed Central Ltd
BackgroundSELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082c4be5cfdce3bc0565bf9172f1431e
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.