Results 51 to 60 of about 12,800 (285)

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal Muscle, 2020
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant ...
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen   +7 more
doaj   +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

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala

Annals of Indian Academy of Neurology
Bethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of ...
Jayaram Saibaba, Saranya B Gomathy, Santhakumar Senthilvelan, Ramkumar Sugumaran, Sunil K Narayan   +4 more
doaj   +1 more source

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

Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family

Journal of Pediatrics Review, 2020
Introduction: Laing early-onset distal myopathy is a disorder with autosomal dominant inheritance pattern caused by a mutation in the MYH7 gene that encodes the human β-myosin heavy chain.
Shabnam Ghazanfari-Sarabi, Mostafa Rayati, Mohammad Bagher Hashemi-Soteh   +2 more
doaj  

Rescuing Mitochondrial Dysfunction in Macrophages Prevents Osteonecrosis of the Jaw in Anti‐Resorptive Therapy

Advanced Science, EarlyView.
Schematic model showing the suggested mechanism that ZA induces classical activation of macrophages by impairing mitochondrial biofunction and inhibiting mitochondrial clearance to contribute to the pathological process of BRONJ. RAPA‐loaded nanoparticles ZDPR has shown potential in alleviating BRONJ lesions as well as treating osteoporosis or ...
Hang Zhang, Xin Shen, Haiyang Liu, Xinxi Yuan, Mumin Cao, Xuepeng Lv, Ziji Ling, Songsong Guo, Rongyao Xu, Xiang Li, Hongbing Jiang   +10 more
wiley   +1 more source

PROTAC‑Mediated HMGCR Depletion Reprograms Lipid Metabolism in Breast Cancer to Potentiate Photoimmunotherapy via Ferroptosis

Advanced Science, EarlyView.
This work introduces a study that identifies HMGCR as a novel target in TNBC and develops a light‐gated PROTAC nanomedicine. Upon irradiation, this agent selectively degrades HMGCR, reprogramming lipid metabolism to induce ferroptosis and potent antitumor immunity, thereby significantly enhancing photoimmunotherapy efficacy.
Tong Su, Guang Li, Yudong Guan, Qi Tian, Youzhi Qi, Yanqiu Zhang, Wenqian Wei, Xinxin Duan, Jiaxin Rui, Hongyan Zhu, Zengping Lin, Changchuan Xie, Zheni Xu, Yaying Wu, Xin Peng, Zhenjie Wang, Kun Chen, Xiaoyan Xin, Bing Zhang   +18 more
wiley   +1 more source

Engineering Immune Cell to Counteract Aging and Aging‐Associated Diseases

Advanced Science, EarlyView.
This review highlights a paradigm shift in which advanced immune cell therapies, initially developed for cancer, are now being harnessed to combat aging. By engineering immune cells to selectively clear senescent cells and remodel pro‐inflammatory tissue microenvironments, these strategies offer a novel and powerful approach to delay age‐related ...
Jianhua Guo, Lanjie Lei, Ying Jin, Lan Su, Shumao Cui, Liyun Shi   +5 more
wiley   +1 more source

A Case of Flaccid Quadriparesis

Indian Journal of Medical Specialities, 2019
Inclusion body myositis (IBM) is the most common inflammatory myopathy above the age of 50 years and three times more common in males than females. It presents as a distal more than proximal myopathy and has an indolent progressive course.
Kashish Gupta, Subhash Kumar, Narendra Bishnoi, Mayank Gupta, Sunil Kumar Mahavar, Raman Sharma   +5 more
doaj   +1 more source

Distal Myopathy

The Tohoku Journal of Experimental Medicine, 1990
Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. There were many reports in the past concerning the varieties of the distal myopathy. Distal myopathy is a rather rare disorder and it may be difficult to diagnose these cases.
openaire   +3 more sources