Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?

DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials

(2023) Francesco Muntoni et al.   NEUROLOGY

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity

(2023) Kevin M. Flanigan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Influence of β2 adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy

(2022) Eli F Kelley et al.   NEUROMUSCULAR DISORDERS

Genetic modifiers of upper limb function in Duchenne muscular dystrophy

(2022) Daniele Sabbatini et al.   JOURNAL OF NEUROLOGY

LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients

(2022) Ana Kosac et al.   Genes

Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients

(2021) Nathalie Doorenweerd et al.   Brain Imaging and Behavior

The PPLD has advantages over conventional regression methods in application to moderately sized genome-wide association studies

(2021) Veronica J. Vieland et al.   PLoS One

Anti-latent TGFβ binding protein 4 antibody improves muscle function and reduces muscle fibrosis in muscular dystrophy

(2021) Alexis R. Demonbreun et al.   Science Translational Medicine

Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

(2021) Carlos Pascual-Morena et al.   Pharmaceuticals

Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications

(2021) Alberto A. Zambon et al.   NEUROLOGY

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

(2020) Pietro Spitali et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MR biomarkers predict clinical function in Duchenne muscular dystrophy

(2020) Alison M. Barnard et al.   NEUROLOGY

Modeling disease trajectory in Duchenne muscular dystrophy

(2020) William D. Rooney et al.   NEUROLOGY

A new linear regression-like residual for survival analysis, with application to genome wide association studies of time-to-event data

(2020) Veronica J. Vieland et al.   PLoS One

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

(2020) Luca Bello et al.   Annals of Clinical and Translational Neurology

The ACTN3 577XX null genotype is associated with low left ventricular dilation-free survival rate in patients with Duchenne muscular dystrophy

(2020) Masashi Nagai et al.   JOURNAL OF CARDIAC FAILURE

Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

(2020) Salvatore Crisafulli et al.   Orphanet Journal of Rare Diseases

Genetic Modifiers of Duchenne Muscular Dystrophy in Chinese Patients

(2020) Menglong Chen et al.   Frontiers in Neurology

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

(2020) Annalaura Torella et al.   PLoS One

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

The “Usual Suspects”: Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy

(2019) Bello et al.   Journal of Clinical Medicine

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 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

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

Knockout of human muscle genes revealed by large scale whole-exome studies

(2018) Stefano Schiaffino   MOLECULAR GENETICS AND METABOLISM

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

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

Osteopontin ablation ameliorates muscular dystrophy by shifting macrophages to a pro-regenerative phenotype

(2016) Joana Capote et al.   JOURNAL OF CELL BIOLOGY

MRI quantifies neuromuscular disease progression

(2016) Sean C Forbes et al.   LANCET NEUROLOGY

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

(2016) Luca Bello et al.   NEUROLOGY

Using AAV vectors expressing the β2-adrenoceptor or associated Gα proteins to modulate skeletal muscle mass and muscle fibre size

(2016) Adam Hagg et al.   Scientific Reports

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

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

(2015) Luca Bello et al.   ANNALS OF NEUROLOGY

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations

(2015) Valeria Ricotti et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial

(2015) Subha V Raman et al.   LANCET NEUROLOGY

Dystrophin expression in muscle stem cells regulates their polarity and asymmetric division

(2015) Nicolas A Dumont et al.   NATURE MEDICINE

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

(2015) Luca Bello et al.   NEUROLOGY

Integrated interactions database: tissue-specific view of the human and model organism interactomes

(2015) Max Kotlyar et al.   NUCLEIC ACIDS RESEARCH

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Immune-mediated pathology in Duchenne muscular dystrophy

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

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

(2015) Andrea Barp et al.   PLoS One

Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy

(2014) Nathalie Doorenweerd et al.   ANNALS OF NEUROLOGY

A Proteome-Scale Map of the Human Interactome Network

(2014) Thomas Rolland et al.   CELL

Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage

(2014) W. L. Barfield et al.   HUMAN MOLECULAR GENETICS

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy

(2014) Sherry Dadgar et al.   JOURNAL OF CELL BIOLOGY

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

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

(2014) M. Zatz et al.   NEUROMUSCULAR DISORDERS

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

(2014) Marika Pane et al.   PLoS One

Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy

(2013) Anna Mayhew et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

(2013) Jane T. Seto et al.   JOURNAL OF CLINICAL INVESTIGATION

Alterations in Osteopontin Modify Muscle Size in Females in Both Humans and Mice

(2013) ERIC P. HOFFMAN et al.   MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

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

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

The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and othe

(2013) Erik K. Henricson et al.   MUSCLE & NERVE

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

(2013) Marika Pane et al.   NEUROMUSCULAR DISORDERS

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

Unknown

(2011) Silvia Consalvi et al.   MOLECULAR MEDICINE

Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study

(2011) E. Mazzone et al.   NEUROLOGY

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

(2010) Kevin M. Flanigan et al.   HUMAN MUTATION

Transforming growth factor (TGF)-β signaling in cardiac remodeling

(2010) Marcin Dobaczewski et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

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

ACTN3R577X Polymorphism and Israeli Top-level Athletes

(2009) N. Eynon et al.   INTERNATIONAL JOURNAL OF SPORTS MEDICINE

Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-β

(2009) Sylvia A. Vetrone et al.   JOURNAL OF CLINICAL INVESTIGATION

Latent TGF-β–binding protein 4 modifies muscular dystrophy in mice

(2009) Ahlke Heydemann et al.   JOURNAL OF CLINICAL INVESTIGATION

The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy

(2009) Craig M. McDonald et al.   MUSCLE & NERVE

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

(2009) Kevin M. Flanigan et al.   NEUROMUSCULAR DISORDERS

An Actn3 knockout mouse provides mechanistic insights into the association between  -actinin-3 deficiency and human athletic performance

(2008) D. G. MacArthur et al.   HUMAN MOLECULAR GENETICS

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

(2008) Akanchha Kesari et al.   HUMAN MUTATION

Osteopontin and skeletal muscle myoblasts: Association with muscle regeneration and regulation of myoblast function in vitro

(2008) Kitipong Uaesoontrachoon et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Late gadolinium enhancement: precursor to cardiomyopathy in Duchenne muscular dystrophy?

(2008) Michael D. Puchalski et al.   INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING

Epinephrine increases DNA synthesis via ERK1/2s through cAMP, Ca2+/PKC, and PI3K/Akt signaling pathways in mouse embryonic stem cells

(2008) Mi Ok Kim et al.   JOURNAL OF CELLULAR BIOCHEMISTRY