Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments

A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy

(2018) Takako Jones et al.   PLoS One

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

(2018) Hyung Jun Park et al.   YONSEI MEDICAL JOURNAL

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

(2018) Amy E Campbell et al.   eLife

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD

(2018) Lindsay M. Wallace et al.   Molecular Therapy-Methods & Clinical Development

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

(2017) Jessica C de Greef et al.   HUMAN MOLECULAR GENETICS

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

(2017) Emanuela Teveroni et al.   JOURNAL OF CLINICAL INVESTIGATION

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy

(2017) Sandra Moreira et al.   JOURNAL OF NEUROLOGY

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

(2017) Germán Morís et al.   MUSCLE & NERVE

DUX-family transcription factors regulate zygotic genome activation in placental mammals

(2017) Alberto De Iaco et al.   NATURE GENETICS

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

(2017) Karlien Mul et al.   NEUROLOGY

Respiratory function in facioscapulohumeral muscular dystrophy 1

(2017) M. Wohlgemuth et al.   NEUROMUSCULAR DISORDERS

Early onset facioscapulohumeral dystrophy – a systematic review using individual patient data

(2017) Rianne J.M. Goselink et al.   NEUROMUSCULAR DISORDERS

Long-term results of Letournel scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A retrospective study of eight cases

(2017) M. Le Hanneur et al.   Orthopaedics & Traumatology-Surgery & Research

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

(2017) Darko Bosnakovski et al.   Nature Communications

DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy

(2017) Sean C. Shadle et al.   PLoS Genetics

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells

(2017) Amy E. Campbell et al.   Skeletal Muscle

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

DUX4-induced constitutive DNA damage and oxidative stress contribute to aberrant differentiation of myoblasts from FSHD patients

(2016) Petr Dmitriev et al.   FREE RADICAL BIOLOGY AND MEDICINE

DUX4 Is Derepressed in Late-Differentiating Keratinocytes in Conjunction with Loss of H3K9me3 Epigenetic Repression

(2016) Orla M. Gannon et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics

(2016) Jennifer CJ Chen et al.   MOLECULAR THERAPY

Electrical impedance myography in facioscapulohumeral muscular dystrophy

(2016) Jeffrey M. Statland et al.   MUSCLE & NERVE

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York

(2016) Rabi Tawil et al.   NEUROMUSCULAR DISORDERS

A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)

(2016) Lisa M. Petek et al.   NEUROMUSCULAR DISORDERS

Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells

(2016) Sunny Das et al.   PLoS One

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

(2015) Virginie Mariot et al.   ANNALS OF NEUROLOGY

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

(2015) Judit Balog et al.   Epigenetics

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

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

(2015) Partha S. Ghosh et al.   MUSCLE & NERVE

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

(2015) Rabi Tawil 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

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

(2015) Qing Feng et al.   eLife

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

Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: An RCT

(2014) N. Voet et al.   NEUROLOGY

Population-based incidence and prevalence of facioscapulohumeral dystrophy

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

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

(2014) Rabi Tawil et al.   Skeletal Muscle

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

The outcome of scapulothoracic arthrodesis using cerclage wires, plates, and allograft for facioscapulohumeral dystrophy

(2013) Alan D. Cooney et al.   JOURNAL OF SHOULDER AND ELBOW SURGERY

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

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

Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy

(2013) Jeffrey M. Statland et al.   NEUROMUSCULAR DISORDERS

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

(2012) Takako Iida Jones et al.   HUMAN MOLECULAR GENETICS

Patient-identified disease burden in facioscapulohumeral muscular dystrophy

(2012) Nicholas E. Johnson et al.   MUSCLE & NERVE

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

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

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

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

(2010) Lindsay M. Wallace et al.   ANNALS OF NEUROLOGY

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

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

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

(2010) Berit Jordan et al.   JOURNAL OF NEUROLOGY

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

Periodic Salbutamol in Facioscapulohumeral Muscular Dystrophy: A Randomized Controlled Trial

(2009) C.A. Payan et al.   ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION

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

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

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

(2008) Darko Bosnakovski et al.   EMBO JOURNAL