Results 91 to 100 of about 36,350 (272)
A Review of Mathematical Models for Muscular Dystrophy: A Systems Biology Approach [PDF]
arXiv, 2016 Muscular dystrophy (MD) describes generalized progressive muscular weakness due to the wasting of muscle fibers. The progression of the disease is affected by known immunological and mechanical factors, and possibly other unknown mechanisms. These dynamics have begun to be elucidated in the last two decades.
arxiv
British Journal of Pharmacology, EarlyView.Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge +10 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2017 Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis ...
Cara A. Timpani +2 more
doaj +1 more source
A Convolutional Neural Network for the Automatic Diagnosis of Collagen VI related Muscular Dystrophies [PDF]
arXiv, 2019 The development of machine learning systems for the diagnosis of rare diseases is challenging mainly due the lack of data to study them. Despite this challenge, this paper proposes a system for the Computer Aided Diagnosis (CAD) of low-prevalence, congenital muscular dystrophies from confocal microscopy images.
arxiv
Studies of the carrier state in the Duchenne type of muscular dystrophy. I. Effect of exercise on serum creatine kinase activity. [PDF]
, 1967 P. Hudgson +3 more
openalex +1 more source
Nanotherapy for Duchenne muscular dystrophy
WIREs Nanomedicine and Nanobiotechnology, 2017 Duchenne muscular dystrophy (DMD) is a lethal X‐linked childhood muscle wasting disease caused by mutations in the dystrophin gene. Nanobiotechnology‐based therapies (such as synthetic nanoparticles and naturally existing viral and nonviral nanoparticles) hold great promise to replace and repair the mutated dystrophin gene and significantly change the ...
Dongsheng Duan +4 more
openaire +4 more sources
Mitonuclear Communication in Stem Cell Function
Cell Proliferation, EarlyView.In this review, we highlight the critical functions of mitonuclear communication and its impact on mitochondrial proteostasis. Additionally, we examine how mitonuclear signalling influences stem cell function, offering new insights into cellular homeostasis, stem cell therapies, and the potential for lifespan extension.
Baozhou Peng, Yaning Wang, Hongbo Zhang
wiley +1 more source
International Journal of Neonatal Screening, 2019 Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the
Anne Timonen +11 more
doaj +1 more source
Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome [PDF]
, 1965 Pierre Ferrier +2 more
openalex +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To evaluate the psychometric properties and measurement quality of the Patient‐Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis. Method De‐identified PROMIS PP Mobility items were completed by
Linda Pax Lowes +6 more
wiley +1 more source