Results 111 to 120 of about 253,218 (253)

Fat Embolism Syndrome in Duchenne Muscular Dystrophy Patients: Early Recognition and Aggressive Therapy

Case Reports in Critical Care, 2018
We describe two pediatric patients with Duchenne muscular dystrophy that presented with acute neurologic deterioration and hypoxic respiratory failure requiring mechanical ventilation.
Lee D. Murphy, Mouhammad Yabrodi, Riad Lutfi   +2 more
doaj   +1 more source

MicroRNA–mRNA Networks in Skeletal Muscle of Tailored Pig Models for Dystrophinopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X‐linked dystrophinopathies caused by mutations in the dystrophin (DMD) gene. A common DMD‐causing mutation in humans is exon 52 deletion (DMDΔ52), which disrupts the reading frame and abolishes dystrophin expression.
Sarah Reschke, Alexander Graf, Frieder Hadlich, Florian Jaudas, Thomas Fröhlich, Michael Stirm, Nikolai Klymiuk, Stefan Krebs, Eckhard Wolf, Asghar Ali   +9 more
wiley   +1 more source

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

Pharmacotherapy of Duchenne Muscular Dystrophy

, 2017
Duchenne muscular dystrophy is a myopathic disease caused by mutations in the dystrophin gene. It is inherited in an X-linked recessive manner from mothers to their sons. The presentation is of progressive muscle weakness in the proximal limb muscles and
Umar, Muhammad Azeem Jalil
core  

Involvement in daily life activities from the perspectives of children and young people with childhood‐onset disabilities: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 10, Page 1351-1364, October 2026.
This scoping review aimed to understand the construct ‘involvement’ in daily life activities from the perspective of children and young people with childhood‐onset disabilities. We identified six conceptual ideas, including a continuum of inner dedication or investment in‐the‐moment, and five others reflecting how children and young people process ...
Vera C Kaelin, Kinga Quaaden, Helena Lindgren, Mats Granlund, Christine Imms   +4 more
wiley   +1 more source

J Child Neurol [PDF]

In this retrospective cohort study, we characterize the health profile of preterm males with Duchenne muscular dystrophy. Major clinical milestones (ambulation cessation, assisted ventilation use, and onset of left ventricular dysfunction) and ...

core  

Cardiac calcium handling in the mouse model of Duchenne Muscular Dystrophy [PDF]

, 2003
The dystrophinopathies are a group of disorders characterised by cellular absence of the membrane stabilising protein, dystrophin. Duchenne muscular dystrophy is the most severe disorder clinically. The deficiency of dystrophin, in the muscular dystrophy
Woolf, Peter James
core  

Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)"

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association ...
Xi-hua LI
doaj  

Relaxin‐2: Shaping the Proteomic Landscape of Skeletal Muscle Physiology, Glucose Trafficking, and Mitochondrial Function in Rat

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
Cardioprotective hormone relaxin‐2 showed relevant effects on rat skeletal muscle by altering proteins linked to muscle function, regeneration, differentiation, mitochondrial function, glucose metabolism, and structural integrity and organization. Specifically, relaxin‐2 reduced the expression of 95 proteins, increased 32, and elicited unique proteins ...
Xocas Vázquez‐Abuín, Lucía Gómez‐Cibeira, Javier García‐Seara, Pablo de la Fuente‐López, Carlos Minguito‐Carazo, Susana B. Bravo, Manuel Otero‐Santiago, Oreste Gualillo, José Ramón González‐Juanatey, Francisca Lago, Sandra Feijóo‐Bandín, Alana Aragón‐Herrera   +11 more
wiley   +1 more source

Aggravation of Cardiovascular and Respiratory Decline in Advanced Duchenne Muscular Dystrophy Complicated by Dilated Cardiomyopathy – Case Study and Review of Literature

Journal of Education, Health and Sport
Introduction: Duchenne muscular dystrophy is a genetic X-linked recessive disorder. This condition is characterized by progressive loss of muscle tissue. Thus, it results in deterioration and inability to perform basic motor skills such as independent
Iwona Welian-Polus, Bartosz Mazur, Michał Bielak, Magdalena Mazur, Elżbieta Rypulak, Wiktoria Wilanowska, Anna Greguła, Karol Stachyrak, Dawid Mika, Kamila Turek   +9 more
doaj   +1 more source