Results 41 to 50 of about 114,439 (345)
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
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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
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Genetic modifiers of ambulation in the cooperative international Neuromuscular Research Group Duchenne natural history study [PDF]
, 2015 OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.
Andreone, Luz +13 more
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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
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
Molecular Therapy: Nucleic Acids, 2018 Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang +8 more
doaj +1 more source
Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V +15 more
core +2 more sources
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? [PDF]
PLoS ONE, 2018 This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children.
Stefano Vicari +16 more
doaj +1 more source
Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]
, 2019 Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder +4 more
core +2 more sources
Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis
European Journal of Epidemiology, 2020 Several studies indicate that prognosis for survival in Duchenne muscular dystrophy (DMD) has improved in recent decades. However, published evidence is inconclusive and some estimates may be obsolete due to improvements in standards of care, in ...
E. Landfeldt +5 more
semanticscholar +1 more source