Zobrazeno 1 - 10
of 574
pro vyhledávání: '"CONGENITAL MYOPATHIES"'
Autor:
Han Zhang, Mengyuan Chang, Daiyue Chen, Jiawen Yang, Yijie Zhang, Jiacheng Sun, Xinlei Yao, Hualin Sun, Xiaosong Gu, Meiyuan Li, Yuntian Shen, Bin Dai
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-15 (2024)
Abstract Congenital myopathies (CMs) are a kind of non-progressive or slow-progressive muscle diseases caused by genetic mutations, which are currently defined and categorized mainly according to their clinicopathological features. CMs exhibit pleiot
Externí odkaz:
https://doaj.org/article/2ed589a765934affa0311ccdaf9188a7
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole ex
Externí odkaz:
https://doaj.org/article/018bcbfda5d24cb1a20ec3e3bac830b5
Autor:
Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Sinikka Hiekkala
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, psychological, and social functioning
Externí odkaz:
https://doaj.org/article/0f7eaff581a349dd88fde8708bb1f67c
Autor:
Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)
Summary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1). RyR1 is the sarcoplasmic reticulum (SR) calcium release channel that mediates excitation-con
Externí odkaz:
https://doaj.org/article/eaee208d483c458182ce30c47fd601c7
Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 65, Iss 5, Pp 271-276 (2022)
Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by esta
Externí odkaz:
https://doaj.org/article/fa1ad7a58f73443ebf95d519ead43bd9
Publikováno v:
Genes and Diseases, Vol 8, Iss 5, Pp 715-720 (2021)
According to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy (NM) and cap myopathy (CD). They are all congenital myopathies and are associated with clinical, pa
Externí odkaz:
https://doaj.org/article/f022ad9bfeb44a069769a2478a803d2c
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/114fce821c2e4141a1f69a5d0d173886
Autor:
Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-18 (2020)
Abstract Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the direct functional whole organism conse
Externí odkaz:
https://doaj.org/article/2c59ba431b5a4681b7ca6ffbbfedcadb
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.