Results 51 to 60 of about 536,446 (168)
Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]
, 1990 A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
Mahler, V. +12 more
core +1 more source
Obesity, EarlyView.ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee +2 more
wiley +1 more source
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]
, 2010 Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M +12 more
core
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Frontiers in Neurology, 2020 Our objective was to investigate the potential of three microRNAs, miR-181a-5p, miR-30c-5p, and miR-206 as prognostic biomarkers for long-term follow up of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients.
Selena Trifunov +11 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
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 +11 more
doaj +1 more source
Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System
Annals of Neurology, Volume 100, Issue 4, Page 709-736, October 2026.Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti +17 more
wiley +1 more source
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
core +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 +9 more
wiley +1 more source
Muscle strength deficiency and mitochondrial dysfunction in a muscular dystrophy model of C. elegans and its functional response to drugs [PDF]
, 2018 Muscle strength is a key clinical parameter used to monitor the progression of human muscular dystrophies including Duchenne and Becker muscular dystrophies.
Pollard, Amelia K. +37 more
core +1 more source