Results 11 to 20 of about 86,962 (305)
The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies [PDF]
Vojnosanitetski Pregled, 2023 Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most ...
Maksić Jasmina +7 more
doaj +1 more source
Frontiers in Genetics, 2023 Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez +19 more
doaj +1 more source
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin
Scientific Reports, 2021 Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop +10 more
doaj +1 more source
Frontiers in Psychology, 2023 IntroductionHuman cooperativeness is an important personality trait. However, the mechanism through which people cooperate remains unclear. Previous research suggests that one of the proposed functions of smiling is to advertise altruistic dispositions ...
Xiaoqi Deng +3 more
doaj +1 more source
Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
, 2013 Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core +3 more sources
IDCases, 2019 Pseudomonas aeruginosa is an uncommon cause of necrotizing acute community-acquired pneumonia (CAP). Only thirteen cases have been previously reported in the literature.
P. Riviere +9 more
doaj +1 more source
Health and Quality of Life Outcomes, 2022 Introduction Duchenne muscular dystrophy is a rare, progressive, life-limiting genetic neuromuscular condition that significantly impacts the quality of life of informal caregivers. Carer quality of life is measured using heterogeneous self-report scales,
Jill Carlton +2 more
doaj +1 more source
Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]
, 2016 Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core +1 more source
Exhibition: Duchenne and Gachet [PDF]
BMJ, 1999 “Duchenne de Boulogne: la mecanique des passions” is at the Ecole nationale superieure des Beaux-arts, Paris, until 4 April, and “Un ami de Cezanne et Van Gogh: le docteur Gachet” is at the Grand Palais, Paris, until 26 April Guillaume Duchenne, born in Boulogne in 1807, studied medicine in Paris and came under the spell of Laennec, Dupuytren, and ...
openaire +3 more sources
Duchenne muscular dystrophy [PDF]
BMJ Case Reports, 2014 A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in a second-degree cousin and also had a history of delayed motor developmental milestones since birth ...
Rajeev Chauhan +3 more
openaire +5 more sources