Results 61 to 70 of about 182,656 (351)

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Keep, Nicholas H., Orengo, C., Sula, Altin, Yeats, C.   +4 more
core   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Orphanet Journal of Rare Diseases, 2020
Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region.
Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang   +6 more
doaj   +1 more source

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

Orphanet Journal of Rare Diseases, 2020
Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura   +8 more
doaj   +1 more source

A Case Report of Statin-Induced Immune-Mediated Necrotizing Myopathy Treatment Challenges

Case Reports in Rheumatology, 2022
Statin-induced necrotizing autoimmune myopathy is an immune-mediated necrotizing myopathy related to the use of statins. It is a very rare disease, which usually presents with proximal muscle weakness and frank elevation in creatine kinase levels ...
Anwar I. Joudeh, Mhd Kutaiba Albuni, Sara Seife Hassen, Phool Iqbal, Elsaid Mohamed Aziz Bedair, Salah Mahdi   +5 more
doaj   +1 more source

Case Report: Monoclonal Gammopathies of Clinical Significance-Associated Myopathy: A Case-Based Review

Frontiers in Oncology, 2022
Monoclonal gammopathies of clinical significance (MGCS)-associated myopathy is a group of muscular MGCS-based rare manifestations. It mainly includes amyloid light chain (AL) amyloidosis and sporadic late-onset nemaline myopathy with monoclonal ...
Hongbin Yu, Du He, Qing Zhang, Bei Cao, Weiping Liu, Yu Wu   +5 more
doaj   +1 more source

A study on the management of corticosteroid side effects in cancer patients [PDF]

, 2015
Background Systemic corticosteroids lead to many adverse effects especially in cancer patients. Preventive measures and treatment options are essential to minimise such side effects.
Fsadni, Clayton John
core  

A recipe for myositis : nuclear factor κB and nuclear factor of activated T-cells transcription factor pathways spiced up by cytokines [PDF]

, 2017
Nuclear factor κB (NF-κB) is a well-known pro-inflammatory transcription factor that regulates the expression of the tissue’s immune-active components, which include cytokines, chemokines and adhesion molecules.
De Paepe, Boel
core   +3 more sources

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Effect of wooden breast myopathy on water-holding capacity and rheological and gelling properties of chicken broiler breast batters

Poultry Science, 2020
The objective of this study was to evaluate the effects of wooden breast myopathy on water-holding, rheological, and gelling properties of chicken broiler breast batter. As to water-holding capacity, wooden breast myopathy significantly increased cooking
Yulong Zhang, Peng Wang, Xinglian Xu, Tianlan Xia, Zhen Li, Tianjiao Zhao   +5 more
doaj   +1 more source