Results 11 to 20 of about 248,256 (115)
Duchenne muscular dystrophy: disease mechanism and therapeutic strategies
Frontiers in Physiology, 2023 Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy.
Addeli Bez Batti Angulski +6 more
semanticscholar +1 more source
Risdiplam in Type 1 Spinal Muscular Atrophy.
New England Journal of Medicine, 2021 BACKGROUND Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger
G. Baranello +16 more
semanticscholar +1 more source
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
Orphanet Journal of Rare Diseases, 2020 Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available.
S. Crisafulli +5 more
semanticscholar +1 more source
International Journal of Environmental Research and Public Health, 2021 Internalisation of appearance ideals moderates the relationship between exposure to media images and body dissatisfaction. To date, the role of thin- and muscular-ideal internalisation in the context of social media remains under explored, particularly ...
Anh Vuong +3 more
semanticscholar +1 more source
JAMA Neurology, 2020 This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell +19 more
semanticscholar +1 more source
Ciencias cognitivas y taichi [PDF]
, 2011 El present article està dedicat a establir ponts entre les ciències cognitives (més concretament, la visió enactiva de la cognició), i la pràctica del tai-txi, provinent de la Xina.
Redondo Orta, Iván
core +2 more sources
The “colonization at home/in the house”: spatial and subjective transformations in waste recycling (Córdoba, Argentina) [PDF]
, 2014 Este artículo define como ‘colonización de lo doméstico’ a la fase del reciclaje de residuos que se realiza en los hogares, esto es clasificar y/o enfardar papeles y cartones, acopiar hasta el momento de la venta. Para ello, se describe esta actividad en
Vergara, Gabriela del Valle
core +5 more sources
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Neurology, 2020 Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping.
D. Frank +14 more
semanticscholar +1 more source
Eteplirsen in the treatment of Duchenne muscular dystrophy
Drug Design, Development and Therapy, 2017 Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500–5,000 male births that is characterized by progressive muscular deterioration.
K. Lim, R. Maruyama, T. Yokota
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2017 Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
I. Verhaart +7 more
semanticscholar +1 more source