Results 81 to 90 of about 39,875 (271)
Aberrant location of inhibitory synaptic marker proteins in the hippocampus of dystrophin-deficient mice [PDF]
, 2014 Duchenne muscular dystrophy (DMD) is a neuromuscular disease that arises from mutations in the dystrophin-encoding gene. Apart from muscle pathology, cognitive impairment, primarily of developmental origin, is also a significant component of the disorder.
Zablocki, Krzysztof +11 more
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Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy
Pediatric Neurology Briefs, 2007 The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD) followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and
J Gordon Millichap
doaj +1 more source
ANZ Journal of Surgery, EarlyView.ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda +46 more
wiley +1 more source
An investigation into the effects of dystrophin on the lateral mobility of muscle membrane components. [PDF]
, 1999 Dystrophin is the product of the Duchenne Muscular Dystrophy gene locus, whose absence results in progressive skeletal muscle breakdown. Despite considerable work on the localisation of dystrophin and its associated complex, its role in muscle function ...
Dutton, A.L., Dutton, Anna Louise
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Discrepancy between systolic and diastolic dysfunction of the left ventricle in patients with Duchenne muscular dystrophy [PDF]
, 1993 名古屋大学NAGOYA University博士(医学)To assess the systolic and diastolic dysfunction of the left ventricle (LV) in relation to age and the severity of impairment in Duchenne muscular dystrophy (DMD), we performed M-mode, two-dimensional and pulsed-wave Doppler ...
Takenaka, Akira +11 more
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PLoS ONE, 2016 Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction
Narinder Janghra +6 more
doaj +1 more source
A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy
International Journal of Neonatal Screening, 2017 Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy +4 more
doaj +1 more source
Developmental Medicine &Child Neurology, EarlyView.This scoping review aimed to understand the construct ‘involvement’ in daily life activities from the perspective of children and young people with childhood‐onset disabilities. We identified six conceptual ideas, including a continuum of inner dedication or investment in‐the‐moment, and five others reflecting how children and young people process ...
Vera C Kaelin +4 more
wiley +1 more source
In vivo behaviour of human precursors into a dystrophic context [PDF]
, 2013 The Duchenne Muscular Dystrophy (DMD) is a lethal recessive X-linked disease caused by mutations in the dystrophin gene, no effective treatment is available up to date.
Vallese, Denis
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