Results 111 to 120 of about 2,881 (205)

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. [PDF]

J Hum Genet, 2023
Ahmad I, Khan A, Noor Ul Ayan H, Budde B, Altmüller J, Korejo AA, Nürnberg G, Thiele H, Tariq M, Nürnberg P, Erdmann J.   +10 more
europepmc   +1 more source

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands. [PDF]

Clin Genet, 2021
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC.   +14 more
europepmc   +1 more source

An update on malignant hyperthermia diagnostics and anaesthetic machine preparation for patients at risk in Africa [PDF]

, 2018
The EMHG first published its protocol for an in vitro contracture test (IVCT) in 19841 and this has ever since formed the bedrock of clinical diagnosis and phenotyping.
Brand, JC, Hopkins, PM
core  

Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca²⁺-Induced Exocytosis in Human Myoblasts. [PDF]

Int J Mol Sci, 2022
Bayonés L, Guerra-Fernández MJ, Hinostroza F, Báez-Matus X, Vásquez-Navarrete J, Gallo LI, Parra S, Martínez AD, González-Jamett A, Marengo FD, Cárdenas AM.   +10 more
europepmc   +1 more source

ミオチュブラーミオパチーにおける形態学的および免疫組織化学的特徴の研究 [PDF]

博士（医学） 甲第583号， 著者名：Minobu Shichiji・Valérie Biancalana・Michel Fardeau・Jean-Yves Hogrel・Makiko Osawa・Jocelyn Laporte・Norma Beatriz Romero，タイトル：Extensive morphological and immunohistochemical characterization in myotubular myopathy，掲載誌：Brain and behavior ...
七字,　美延
core  

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy. [PDF]

J Pediatr Genet, 2023
Singanamalla B, Kesavan S, Aggarwal D, Chatterjee D, Urtizberea A, Suthar R.   +5 more
europepmc   +1 more source

Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. [PDF]

Mol Ther Nucleic Acids, 2022
Trochet D, Prudhon B, Mekzine L, Lemaitre M, Beuvin M, Julien L, Benkhelifa-Ziyyat S, Bui MT, Romero N, Bitoun M.   +9 more
europepmc   +1 more source

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. [PDF]

Orphanet J Rare Dis, 2021
Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian AM, De Lucia S, Lilien C, Thielemans L, Paradis K, Cowling BS, Freitag C, Carlin BP, Servais L, NatHis-MTM Study Group.   +13 more
europepmc   +1 more source

Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. [PDF]

, 2019
Biological roles of obscurin and its close homolog Obsl1 (obscurin-like 1) have been enigmatic. While obscurin is highly expressed in striated muscles, Obsl1 is found ubiquitously.
Blondelle, Jordan, Bremner, Shannon, Clark, Madison, Desmond, Patrick, Estève, Eric, Ghassemian, Majid, Lange, Stephan, Marrocco, Valeria, Myers, Stephanie, Nguyen, Jim, Pierantozzi, Enrico, Sorrentino, Vincenzo, Ward, Samuel, Wright, Matthew   +13 more
core   +1 more source

Des mutations de la dynamine 2 à l’origine de la forme dominante de la myopathie centronucléaire [PDF]

, 2006
Bitoun, Marc, Guicheney, Pascale, Romero, Norma B.   +2 more
core   +1 more source