Results 181 to 190 of about 29,255 (302)

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies. [PDF]

Front Mol Biosci, 2023
Esapa CT, McIlhinney RAJ, Waite AJ, Benson MA, Mirzayan J, Piko H, Herczegfalvi Á, Horvath R, Karcagi V, Walter MC, Lochmüller H, Rizkallah PJ, Lu QL, Blake DJ.   +13 more
europepmc   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

A Review of Muscular Dystrophies. [PDF]

Anesth Prog
Hoang T, Dowdy RAE.
europepmc   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, Volume 46, Issue 2, Page 475-512, March 2026.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source

From Earth to orbit: How to preserve muscle health in space and bed rest

Experimental Physiology, EarlyView.
Antonios Matsakas, Colleen Deane
wiley   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source

Preclinical quality, safety, and efficacy of a CGMP iPSC-derived myogenic progenitor product for the treatment of muscular dystrophies. [PDF]

Mol Ther
Azzag K, Magli A, Kiley J, Sumstad D, Kadidlo D, Crist SB, Norris B, Ahlquist A, Hocum Stone LL, Everett J, Shappa Faustich J, Seelig D, Rangarajan P, Kim H, Flory C, Bushman F, Ramachandran S, Kang PB, Schumacher RJ, Wagner JE, Kyba M, Graham ML, McKenna DH, Perlingeiro RCR.   +23 more
europepmc   +1 more source

Severe Systemic Calciphylaxis in a Young Cat [PDF]

Brandenburg, Budisavljevic, Declercq, Deitz, Demetriou, Edelstein, Feldman, Haberle, Hilbe, Kruger, Martin, Midkiff, Morita, Nakamura, Nigwekar, Petersen, Salvadori, Selye, Shelton, Shelton, Stern, Stockham, Tan, Thom, Yabuzoe   +24 more
core   +1 more source

Modeling, Evaluation, and In Vivo Estimation of Muscle Cell Diameter With the Random Permeable Barrier Model: Correlation With Subject Characteristics and Isometric Torque

NMR in Biomedicine, Volume 39, Issue 3, March 2026.
We evaluated the random permeable barrier model (RPBM) through simulations, model fitting, and in vivo analysis of 100 healthy adults. Simulations showed that stable estimates of muscle cell diameter and membrane permeability require constraining τ and fixing D0 at ~0.9 of axial diffusivity at long diffusion times.
Martijn Froeling, Roosmarijn Brenninkmeijer, Danny R. van der Woude, Bart Bartels, Linda Heskamp   +4 more
wiley   +1 more source

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. [PDF]

Muscle Nerve
Suhl J, Conway KM, Thomas S, Rasmussen SA, Howard JF, Johnson NE, Romitti PA, Mathews KD, Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet).   +9 more
europepmc   +1 more source