Results 121 to 130 of about 561,973 (252)

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background The diagnosis of inclusion body myositis (IBM) can be delayed because of its heterogeneous clinical presentation and the lack of specific biomarkers. Muscle imaging has gained increasing relevance over the past decade and is now included among the supportive criteria in the international diagnostic guidelines.
Eleonora Torchia, Matteo Lucchini, José Verdu‐Diaz, Sara Bortolani, Beatrice Ravera, Vincenzo Carlomagno, Alessandra Cicia, Daniela Bernardo, Mauro Monforte, Robert Rehmann, Rudolf Andre Kley, Mario Sabatelli, Jordi Díaz‐Manera, Enzo Ricci, Massimiliano Mirabella, Giorgio Tasca   +15 more
wiley   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

Direct AMPK Activation Confers Mutation‐Independent Therapeutic Benefit in Duchenne Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) is a severe, life‐limiting neuromuscular disorder (NMD) characterized by progressive muscle wasting and mitochondrial dysfunction. Although gene therapies offer promise, even those already approved by regulatory agencies, their use remains constrained by mutation specificity, delivery challenges and
Sean Y. Ng, Andrew I. Mikhail, Stephanie R. Mattina, Magda A. Lesinski, Irena A. Rebalka, Sophie I. Hamstra, Donald Xhuti, Val A. Fajardo, Mark A. Tarnopolsky, Joshua P. Nederveen, Gregory R. Steinberg, Thomas J. Hawke, Vladimir Ljubicic   +12 more
wiley   +1 more source

Review Article : Neuromuscular causes of weakness in critically ill patients [PDF]

, 2017
Multiple predisposing factors are responsible for the development of neuromuscular weakness in a critically ill patient. Thorough history and physical examination is paramount and should not be omitted despite that the majority of patients are ...
Govindarajan, Raghav, Katyal, Nakul
core   +1 more source

Largely Distinct Post‐Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Skeletal muscle wasting and weakness are prominent disease features. Originally considered to arise from common transcriptional changes, recent analyses demonstrated that different stimuli induce muscle wasting via largely distinct mRNA and protein changes.
Anna Stephan, Flavia A. Graca, Suresh Poudel, Yingxue Fu, Yong‐Dong Wang, Myriam Labelle, Fabio Demontis   +6 more
wiley   +1 more source

Steroid‐Refractory Cryptogenic Organising Pneumonia (COP) in a Patient With Mannose‐Binding Lectin (MBL) Deficiency

Respirology Case Reports, Volume 14, Issue 2, February 2026.
A 67‐year‐old man with cryptogenic organising pneumonia developed recurrent relapses despite corticosteroid and mycophenolate therapy. A complete absence of mannose‐binding lectin was identified, suggesting impaired apoptotic cell clearance as a contributor to persistent inflammation.
Ilias E. Dimeas, Sotirios I. Sinis, Paraskevi Kirgou, Cormac McCarthy, Zoe Daniil   +4 more
wiley   +1 more source

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

Kidney disease impairs tendon function in rats

The Journal of Physiology, Volume 604, Issue 3, Page 1113-1136, 1 February 2026.
Abstract figure legend This study demonstrates for the first time that tendon strength is reduced in a rodent model of chronic kidney disease (8 weeks of 0.25% adenine feeding) and confirms concurrent dysfunction in muscle and bone. These findings provide novel characterization of multiple tissues, paving the way for future investigations into the ...
Christopher M. T. Hayden, Natalie K. Gilmore, Benjamin Osipov, Sarah E. Brashear, Marc Gorge, Juang‐Yu Jen, Lucas R. Smith, Blaine A. Christiansen, Baback Roshanravan, Keith Baar   +9 more
wiley   +1 more source

A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis

BMC Research Notes, 2017
Background Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired.
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage   +2 more
doaj   +1 more source