Genetic modifiers of respiratory function in Duchenne muscular dystrophy

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study

(2019) V. Ricotti et al.   NEUROMUSCULAR DISORDERS

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in Duchenne muscular dystrophy

(2018) Robert B. Weiss et al.   ANNALS OF NEUROLOGY

Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood

(2018) Antonella LoMauro et al.   EUROPEAN RESPIRATORY JOURNAL

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

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Longitudinal Pulmonary Function Testing Outcome Measures in Duchenne Muscular Dystrophy: Long-term Natural History with and without Glucocorticoids

(2018) Craig M. McDonald et al.   NEUROMUSCULAR DISORDERS

SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells

(2017) Sara Vianello et al.   HUMAN MOLECULAR GENETICS

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

(2017) Marshall W. Hogarth et al.   Nature Communications

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

(2017) Nathalie Doorenweerd et al.   Scientific Reports

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

(2016) Luca Bello et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DMDgenotypes and loss of ambulation in the CINRG Duchenne Natural History Study

(2016) Luca Bello et al.   NEUROLOGY

Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy

(2016) David Gloss et al.   NEUROLOGY

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

(2015) Luca Bello et al.   ANNALS OF NEUROLOGY

Characterization of pulmonary function in Duchenne Muscular Dystrophy

(2015) O.H. Mayer et al.   PEDIATRIC PULMONOLOGY

Immune-mediated pathology in Duchenne muscular dystrophy

(2015) Amy S. Rosenberg et al.   Science Translational Medicine

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

(2014) Ery Kus Dwianingsih et al.   JOURNAL OF HUMAN GENETICS

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessingSPP1andLTBP4variants

(2014) Janneke C van den Bergen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

(2014) Marika Pane et al.   PLoS One

The cooperative international neuromuscular research group duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used

(2013) Craig M. McDonald et al.   MUSCLE & NERVE

Osteopontin, inflammation and myogenesis: influencing regeneration, fibrosis and size of skeletal muscle

(2013) Charles N. Pagel et al.   Journal of Cell Communication and Signaling

LTBP4genotype predicts age of ambulatory loss in duchenne muscular dystrophy

(2012) Kevin M. Flanigan et al.   ANNALS OF NEUROLOGY

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

(2012) L. Bello et al.   NEUROLOGY

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

(2011) Véronique Humbertclaude et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

(2011) Francesca Magri et al.   JOURNAL OF NEUROLOGY

Predicting the severity of Duchenne muscular dystrophy: Implications for treatment

(2010) S. F. Nelson et al.   NEUROLOGY

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

(2010) E. Pegoraro et al.   NEUROLOGY