Results 281 to 290 of about 54,763 (333)

Volitional exercise elicits physiological and molecular improvements in the severe D2.mdx mouse model of Duchenne muscular dystrophy

The Journal of Physiology, EarlyView.
Abstract figure legend This study investigated the effects of volitional exercise on muscle health in the more severe D2.mdx model of Duchenne muscular dystrophy (DMD). We showed that 8–10 weeks of a relatively high volume of voluntary wheel running (VWR) in D2.mdx animals augmented select muscle mass and normalized ex vivo muscle force compared to ...
Stephanie R. Mattina, Sean Y. Ng, Andrew I. Mikhail, Derek W. Stouth, Cora E. Jornacion, Irena A. Rebalka, Thomas J. Hawke, Vladimir Ljubicic   +7 more
wiley   +1 more source

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort. [PDF]

J Neuromuscul Dis
Baskar D, Preethish-Kumar V, Polavarapu K, Vengalil S, Nashi S, Menon D, Ganaraja VH, Girija MS, Nandeesh BN, Arunachal G, Nalini A.   +10 more
europepmc   +1 more source

Obligatory and accessory respiratory muscle structure, function and control in early and advanced disease in the mdx mouse model of Duchenne muscular dystrophy

The Journal of Physiology, EarlyView.
Abstract figure legend We examined obligatory (diaphragm, external intercostal and parasternal) and accessory (sternomastoid, cleidomastoid, scalene and trapezius) muscle form, function and control in early (4 months) and advanced (16 months) dystrophic disease. Peak inspiratory pressure is preserved in 4‐month‐old mdx mice but is decreased in 16‐month‐
Aoife D. Slyne, David P. Burns, Karina Wöller, Amandine May, Roisin Dowd, Sarah E. Drummond, Grzegorz Jasionek, Ken D. O'Halloran   +7 more
wiley   +1 more source

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. [PDF]

Neurogenetics
Safwat S, Flannery KP, El Beheiry AA, Mokhtar MM, Abdalla E, Manzini MC.   +5 more
europepmc   +1 more source

Bone health perspectives among Indigenous people: a qualitative study

Medical Journal of Australia, EarlyView.
Abstract Objectives To explore perspectives and beliefs on bone health among Indigenous adults in Victoria. Design Qualitative focus groups with semi‐structured questions. Focus group discussions were analysed for themes and subthemes using an Indigenous research framework based on three concepts: Ways of Knowing, Ways of Being and Ways of Doing ...
Troy Walker (Yorta Yorta), Karan P Singh, Vanessa Gan, Brooke Conley (Ngiyampaa), Jessica Bravo, Nigel Smith (Weilwan), April Clarke (Eastern Maar, Kirrae Whurrung, Djap Wurrung), Jackson Baker, Louise J Maple‐Brown, Robin M Daly, Jennifer Browne, Jesse Zanker, Cat Shore‐Lorenti, David Scott, Peter R Ebeling, Ayse Zengin   +17 more
wiley   +1 more source

The attitudes of individuals with or at risk of adult‐onset genetic conditions on reproductive genetic testing: A systematic review

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract Individuals who carry a genetic variant for a genetic disease can access reproductive genetic testing in order to prevent the transmission of the gene variant to their children. This systematic review aimed to synthesize the findings from both qualitative and quantitative literature to understand these individuals' attitudes toward pre ...
Shanice Allen, Alisdair McNeill, Christopher McDermott, Felicity Boardman, Jade Howard   +4 more
wiley   +1 more source

Breathing and balance: Clinical insights and management strategies of respiratory acid‐base disorders

Nutrition in Clinical Practice, Volume 40, Issue 4, Page 774-792, August 2025.
Abstract Respiratory acidosis and alkalosis are two of the four main acid‐base processes encountered in clinical practice. These two processes are tightly balanced by breathing. Identification and management of respiratory acid‐base disorders are important for clinicians, particularly when caring for patients with underlying pulmonary and neurological ...
Anne M. Tucker, Tami N. Johnson
wiley   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]

Mol Genet Genomic Med
Karthikeyan P, Kumar SH, Khanna-Gupta A, Bremadesam Raman L.   +3 more
europepmc   +1 more source

The Spectrum of Epidermolysis Bullosa in KwaZulu‐Natal, South Africa

International Journal of Dermatology, Volume 64, Issue 8, Page 1425-1433, August 2025.
ABSTRACT Background Epidermolysis bullosa (EB) is a rare, heterogeneous genodermatosis characterized by skin fragility due to inherited defects in genes encoding proteins that maintain epidermal–dermal integrity. The severity and complications of EB vary by subtype, and no cure currently exists. The epidemiology is unknown in South Africa. Methods This
Antoinette Chateau, Thirona Naicker, Cassandra Bruce‐Brand, Johann Schneider, Colleen Aldous, Ncoza Dlova, Hui‐Ching Cheng, Pei‐Chi Lin, Hsin‐Yu Huang, Chao‐Kai Hsu, John A. McGrath   +10 more
wiley   +1 more source

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. [PDF]

J Community Genet
Hoefel AML, Weschenfelder CA, Rosa BF, Donis KC, Saute JAM.   +4 more
europepmc   +1 more source