Facioscapulohumeral Dystrophy

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

(2016) Marlinde L. van den Boogaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2

(2016) Patrizia Calandra et al.   JOURNAL OF MEDICAL GENETICS

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

(2016) Ana Nikolic et al.   BMJ Open

New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients

(2015) Ning Wang et al.   CHINESE MEDICAL JOURNAL

Effects of vitamin C, vitamin E, zinc gluconate, and selenomethionine supplementation on muscle function and oxidative stress biomarkers in patients with facioscapulohumeral dystrophy: A double-blind randomized controlled clinical trial

(2015) Emilie Passerieux et al.   FREE RADICAL BIOLOGY AND MEDICINE

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD

(2015) Jong-Won Lim et al.   HUMAN MOLECULAR GENETICS

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

(2015) Jeffrey M. Statland et al.   MUSCLE & NERVE

Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy

(2015) Grete Andersen et al.   NEUROLOGY

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

(2015) Rabi Tawil et al.   NEUROLOGY

Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

(2015) Jeffrey M. Statland et al.   NEUROLOGY

Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

(2015) Takako I Jones et al.   Clinical Epigenetics

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

(2014) Mirjam Larsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

(2014) Zizhen Yao et al.   HUMAN MOLECULAR GENETICS

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

(2014) Richard J.L.F. Lemmers et al.   HUMAN MOLECULAR GENETICS

Restrictive lung involvement in facioscapulohumeral muscular dystrophy

(2014) Michele A. Scully et al.   MUSCLE & NERVE

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

(2014) M.-C. Gaillard et al.   NEUROLOGY

Population-based incidence and prevalence of facioscapulohumeral dystrophy

(2014) J. C. W. Deenen et al.   NEUROLOGY

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

(2013) Sabrina Sacconi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

(2013) Giulia Ricci et al.   BRAIN

Risk of functional impairment in Facioscapulohumeral muscular dystrophy

(2013) Jeffrey M. Statland et al.   MUSCLE & NERVE

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

(2013) K. L. Lutz et al.   NEUROLOGY

Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size

(2013) J. M. Statland et al.   NEUROLOGY

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles

(2012) Giorgio Tasca et al.   PLoS One

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

(2012) S. Attarian et al.   REVUE NEUROLOGIQUE

Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

(2011) Ebe Pastorello et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

CD8+ T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI

(2010) Giovanni Frisullo et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Clinical features of facioscapulohumeral muscular dystrophy 2

(2010) J. C. de Greef et al.   NEUROLOGY

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

(2009) ML Mostacciuolo et al.   CLINICAL GENETICS

Facioscapulohumeral muscular dystrophy

(2009) George W Padberg et al.   CURRENT OPINION IN NEUROLOGY

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

(2009) Lauren Snider et al.   HUMAN MOLECULAR GENETICS

A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy

(2008) Kathryn R. Wagner et al.   ANNALS OF NEUROLOGY

Chronic Pain in Persons With Myotonic Dystrophy and Facioscapulohumeral Dystrophy

(2008) Mark P. Jensen et al.   ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation

(2008) Darko Bosnakovski et al.   EXPERIMENTAL NEUROLOGY