Results 61 to 70 of about 10,549 (211)

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, EarlyView.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Distinctive serum miRNA profile in mouse models of striated muscular pathologies.

PLoS ONE, 2013
Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments.
Nicolas Vignier, Fatima Amor, Paul Fogel, Angélique Duvallet, Jérôme Poupiot, Sabine Charrier, Michel Arock, Marie Montus, Isabelle Nelson, Isabelle Richard, Lucie Carrier, Laurent Servais, Thomas Voit, Gisèle Bonne, David Israeli   +14 more
doaj   +1 more source

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel, Mechteld E. Guldemond, Kevin R. Keene, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hermien E. Kan, Nadine A. M. E. van der Beek   +7 more
wiley   +1 more source

Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data

, 2006
Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer Emile J, Veronica Vinciotti, Xiaohui Liu, t' Hoen, PC, de Meijer, EJ, Emile J de Meijer, Rolf Turk, 't Hoen Peter AC, Turk, R, Peter AC 't Hoen, Vinciotti, V, Xiaohui, L, Vinciotti Veronica, Turk Rolf, Liu Xiaohui   +14 more
core   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Case report: A single novel calpain 3 gene variant associated with mild myopathy

Frontiers in Genetics
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described.
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis   +20 more
doaj   +1 more source

A Clinical Study Shows Safety and Efficacy of Autologous Bone Marrow Mononuclear Cell Therapy to Improve Quality of Life in Muscular Dystrophy Patients

Cell Transplantation, 2013
Muscular dystrophy is a genetic disorder with no definite cure. A study was carried out on 150 patients diagnosed with muscular dystrophy. These included Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and Becker muscular dystrophy variants.
Alok Sharma M.S., M.Ch., Hemangi Sane, Prerna Badhe, Nandini Gokulchandran, Pooja Kulkarni, Mamta Lohiya, Hema Biju, V. C. Jacob   +7 more
doaj   +1 more source