Results 41 to 50 of about 6,773 (176)

Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

Stem Cell Research, 2018
Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms.
Aoife Gowran, Gabriella Spaltro, Federica Casalnuovo, Vera Vigorelli, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Cristina Gervasini, Patrizia Nigro, Giulio Pompilio   +11 more
doaj   +1 more source

Downstream Pathways of Dystrophin Deficiency in Duchenne Muscular Dystrophy: Implications for Muscle Degeneration and Regeneration

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 4, August 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy, primarily affecting skeletal muscle and leading to premature death. Although the loss of dystrophin has long been recognised as the primary cause of the disease, no definitive cure is currently available. As a consequence, therapeutic efforts
Raffaele Epis, Gabriele Rovetta, Giulia Ferrari, Chiara Bonfanti, Giorgia Careccia, Graziella Messina   +5 more
wiley   +1 more source

Basal Energetics and Phosphocreatine Recovery Kinetics in Ambulatory Boys With Duchenne Muscular Dystrophy

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Basal energetics and phosphocreatine (PCr) recovery kinetics of the lower leg anterior compartment (primarily tibialis anterior; TA) were evaluated at rest and after dorsiflexion muscle contractions in ambulatory boys with Duchenne muscular dystrophy (DMD) and unaffected controls using 31P‐MRS.
Pratiksha P. Awale, Christophor Lopez, Tanja Taivassalo, Krista Vandenborne, Glenn A. Walter, Sean C. Forbes   +5 more
wiley   +1 more source

Cardiac involvement in Becker muscular dystrophy [PDF]

Canadian Journal of Cardiology, 2008
The present review gives an overview of the clinical and subclinical manifestations of cardiac involvement (CI) in Becker muscular dystrophy (BMD), its pathophysiological background, diagnostic possibilities and therapeutic options for CI in BMD patients and carriers. CI may be subclinical or symptomatic.
Josef, Finsterer, Claudia, Stöllberger
openaire   +2 more sources

Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet, Pierre‐Yves Baudin, Benjamin Marty, Marc Lapert, Harmen Reyngoudt   +4 more
wiley   +1 more source

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1080-1096, August 2026.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda, Pien M. M. Weerkamp, Anna Kolesnik, Chloe Geagan, Daniela Chieffo, Mariana Suárez‐Bagnasco, David Skuse, Elizabeth Vroom, Erik H. Niks, John Vissing, Isabelle Desguerre, Volker Straub, Francesco Muntoni, Eugenio Mercuri, Jos G. M. Hendriksen, on behalf of BIND Consortium, Nathalie Angeard, Dimitrios Athanasiou, Suzie‐Ann Bakker, Nathalie Boddaert, Ellie Drummond, Chloe Durrlemann, Fernanda Fortunato, Luis Miguel García‐Moreno, Mattia Gervasi, Rosanne Govaart, Irina Guliaeva, Catherine Hankinson, Leslie Hemar, Rebecca Hendel, Hermien Kan, Leevi Kerkela, Gregory Landon, Monika Malinova, William Mandy, Federica Moriconi, Monia Pellizzari, Sarah Poncet, Elvina Sakellariou, Sergiu Siminiuc, Anna Würgler Slipsager, Lily Smythe, Pietro Spitali, Mads Peter Godtfeldt Stemmerik, Asmus Vogel, Jeanne Wolstencroft, Camilla Zanetti   +46 more
wiley   +1 more source

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

Internal Medicine Journal, Volume 56, Issue 8, Page 1283-1300, August 2026.
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

Serum Transaminase in Duchenne Dystrophy

Pediatric Neurology Briefs, 2011
Researchers at Children’s Hospital Boston, MA, have shown a linear relationship between serum CPK and serum ALT and AST and a logarithmic relationship between serum enzyme levels and age for boys with Duchenne (n=46) or Becker (n=9) muscular dystrophy ...
J Gordon Millichap
doaj   +1 more source

Human Disposition, Metabolism, and Excretion of Sevasemten (EDG‐5506), a Selective Modulator of Fast Myosin in Healthy Volunteers

The Journal of Clinical Pharmacology, Volume 66, Issue 7, July 2026.
Abstract Sevasemten (EDG‐5506) is a novel, orally bioavailable, investigational small molecule designed to selectively modulate type II fast skeletal myosin with the goal of protecting dystrophic muscle from contraction‐induced injury. Sevasemten is in clinical development for the treatment of Becker and Duchenne muscular dystrophy.
Molly Madden, Marc Evanchik, Jonathan Lane, Joanne Donovan, Alan J. Russell, Jeffrey A. Silverman   +5 more
wiley   +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