Peptide-conjugate antisense based splice-correction for Duchenne muscular dystrophy and other neuromuscular diseases
MK Tsoumpra, S Fukumoto, T Matsumoto, S Takeda… - …, 2019 - thelancet.com
Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive
muscle degeneration, caused by the absence of dystrophin. Exon skipping by antisense …
muscle degeneration, caused by the absence of dystrophin. Exon skipping by antisense …
Home mechanical ventilation: an overview
AK Simonds - Annals of the American Thoracic Society, 2016 - atsjournals.org
Prevalence studies have shown heterogeneous use of home mechanical ventilation in
different conditions, with a marked increase in uptake especially in users of noninvasive …
different conditions, with a marked increase in uptake especially in users of noninvasive …
Managing Duchenne muscular dystrophy–the additive effect of spinal surgery and home nocturnal ventilation in improving survival
M Eagle, J Bourke, R Bullock, M Gibson, J Mehta… - Neuromuscular …, 2007 - Elsevier
OBJECTIVES: To determine the long term survival in patients with Duchenne muscular
dystrophy (DMD) following spinal surgery and nocturnal ventilation. STUDY DESIGN: A …
dystrophy (DMD) following spinal surgery and nocturnal ventilation. STUDY DESIGN: A …
Prevalence of fatigue, pain, and affective disorders in adults with Duchenne muscular dystrophy and their associations with quality of life
RF Pangalila, GA Van Den Bos, B Bartels… - Archives of physical …, 2015 - Elsevier
Objectives To assess the prevalence of fatigue, pain, anxiety, and depression in adults with
Duchenne muscular dystrophy (DMD), and to analyze their relationship with health-related …
Duchenne muscular dystrophy (DMD), and to analyze their relationship with health-related …
Natural history of Ullrich congenital muscular dystrophy
A Nadeau, M Kinali, M Main, C Jimenez-Mallebrera… - Neurology, 2009 - AAN Enterprises
Objective: To describe the course, complications, and prognosis of Ullrich congenital
muscular dystrophy (UCMD), with special reference to life-changing events, including loss of …
muscular dystrophy (UCMD), with special reference to life-changing events, including loss of …
A combined prospective and retrospective comparison of long-term functional outcomes suggests delayed loss of ambulation and pulmonary decline with long-term …
O Mitelman, HZ Abdel-Hamid, BJ Byrne… - Journal of …, 2022 - content.iospress.com
Background: Studies 4658-201/202 (201/202) evaluated treatment effects of eteplirsen over
4 years in patients with Duchenne muscular dystrophy and confirmed exon-51 amenable …
4 years in patients with Duchenne muscular dystrophy and confirmed exon-51 amenable …
Subjective caregiver burden of parents of adults with Duchenne muscular dystrophy
RF Pangalila, GAM van den Bos, HJ Stam… - Disability and …, 2012 - Taylor & Francis
Purpose: To describe subjective caregiver burden of parents of adults with Duchenne
muscular dystrophy (DMD) and to identify factors associated with the level of subjective …
muscular dystrophy (DMD) and to identify factors associated with the level of subjective …
A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping
GL Walmsley, V Arechavala-Gomeza… - PloS one, 2010 - journals.plos.org
Background Duchenne muscular dystrophy (DMD), which afflicts 1 in 3500 boys, is one of
the most common genetic disorders of children. This fatal degenerative condition is caused …
the most common genetic disorders of children. This fatal degenerative condition is caused …
Living a normal life in an extraordinary way: A systematic review investigating experiences of families of young people's transition into adulthood when affected by a …
V Waldboth, C Patch, R Mahrer-Imhof… - International journal of …, 2016 - Elsevier
Introduction The transition into adulthood is a developmental stage within the life cycle. A
chronic childhood condition can disrupt this transition and create major challenges for both …
chronic childhood condition can disrupt this transition and create major challenges for both …
A review of nutrition in Duchenne muscular dystrophy
ZE Davidson, H Truby - Journal of human nutrition and dietetics, 2009 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a recessive X linked genetic disorder characterised
by progressive muscle weakness and reduced muscle tone. Affecting only boys, it limits life …
by progressive muscle weakness and reduced muscle tone. Affecting only boys, it limits life …