Results 111 to 120 of about 254,202 (199)

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

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  

Teaching Cell and Gene Therapy in Genetic Counseling Programs: Survey Findings and Suggested Practical Resources for Integration

Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.
ABSTRACT As cell and gene therapies (CGTs) advance through clinical trials into clinical practice, it becomes increasingly important for genetic counselors (GCs) to understand these therapeutics to discuss them with patients. Despite the apparent need for GCs to obtain CGT‐related education, little is known about the training GCs receive on CGT topics ...
Mariel Sebby, Lily McConachie, Leah Wetherill, Paula Delk, Emily L. Hopewell   +4 more
wiley   +1 more source

Posttranslational Modifications of p62/SQSTM1 in Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Schematic illustration of p62 as a posttranslational modifications (PTMs)‐programmed integrator in homeostasis, pathogenesis, and therapeutic targeting. (Left) Homeostasis: In physiological states, p62, through various PTMs such as phosphorylation, ubiquitination, and acetylation, coordinates essential cellular functions.
Weikai Wang, Xin Jiang, Runing Qiu, Chandra Sugiarto Wijaya, Miaoqin Chen, Jin Wang, Liyuan Zhu, Hongchuan Jin, Lifeng Feng   +8 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

Small Proteoglycans, Big Impact: Decorin, Biglycan, and Asporin in Musculoskeletal Tissue Health and Disease

Proteoglycan Research, Volume 4, Issue 4, October 2026.
ABSTRACT The extracellular matrix (ECM) is a dynamic and information‐rich network that integrates structural support with biochemical and mechanical signaling. Among its key regulatory components are the Small Leucine‐Rich Proteoglycans (SLRPs), a family of matrix molecules that coordinate extracellular architecture with cell signaling.
Alessandra Leone, Zsuzsa Jenei‐Lanzl, Frank Zaucke   +2 more
wiley   +1 more source

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

Kinetic and Mean‐Field Modeling of Muscular Dystrophies

Studies in Applied Mathematics, Volume 157, Issue 4, October 2026.
ABSTRACT We present a new class of models for assessing the cell dynamics characterizing muscular dystrophies. The proposed approach comprises a system of integro‐differential equations for the statistical distributions, over a large patient cohort, of the densities of muscle fibers and immune cells implicated in muscle inflammation, degeneration, and ...
Tommaso Lorenzi, Horacio Tettamanti, Mattia Zanella   +2 more
wiley   +1 more source