Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
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Title
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Authors
Keywords
Steroids, Walking, Mutation, Natural history of disease, Duchenne muscular dystrophy, Patient advocacy, Dystrophin, Human genetics
Journal
PLoS One
Volume 14, Issue 6, Pages e0218683
Publisher
Public Library of Science (PLoS)
Online
2019-06-26
DOI
10.1371/journal.pone.0218683
References
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Note: Only part of the references are listed.- DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype
- (2018) Richard T. Wang et al. HUMAN MUTATION
- Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
- (2018) Craig M McDonald et al. LANCET
- Evidence-based care in Duchenne muscular dystrophy
- (2018) Craig M McDonald et al. LANCET NEUROLOGY
- Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017
- (2018) Volker Straub et al. NEUROMUSCULAR DISORDERS
- Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy
- (2016) Jerry R. Mendell et al. ANNALS OF NEUROLOGY
- DMDgenotypes and loss of ambulation in the CINRG Duchenne Natural History Study
- (2016) Luca Bello et al. NEUROLOGY
- Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy
- (2016) Eugenio Mercuri et al. NEUROMUSCULAR DISORDERS
- Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study
- (2016) Elena S. Mazzone et al. PLoS One
- Individualized Prediction of Changes in 6-Minute Walk Distance for Patients with Duchenne Muscular Dystrophy
- (2016) Nathalie Goemans et al. PLoS One
- Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study
- (2015) Luca Bello et al. ANNALS OF NEUROLOGY
- Dystrophin quantification: Biological and translational research implications
- (2014) K. Anthony et al. NEUROLOGY
- 6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes
- (2014) Marika Pane et al. PLoS One
- Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes
- (2014) Marika Pane et al. PLoS One
- THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study
- (2013) Craig M. Mcdonald et al. MUSCLE & NERVE
- Biochemical Characterization of Patients With In-Frame or Out-of-FrameDMDDeletions Pertinent to Exon 44 or 45 Skipping
- (2013) Karen Anthony et al. JAMA Neurology
- LTBP4genotype predicts age of ambulatory loss in duchenne muscular dystrophy
- (2012) Kevin M. Flanigan et al. ANNALS OF NEUROLOGY
- Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
- (2011) K. Anthony et al. BRAIN
- SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
- (2010) E. Pegoraro et al. NEUROLOGY
- North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
- (2010) Elena Mazzone et al. NEUROMUSCULAR DISORDERS
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