Disease: Landouzy-Dejerine muscular dystrophy
- A disease-specific therapy in facioscapulohumeral muscular dystrophy
- A human immune/muscle xenograft model of FSHD muscle pathology
- A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD)
- A Systemically Administered Unconjugated Antisense Oligonucleotide Targeting DUX4 Improves Muscular Injury and Motor Function in FSHD Model Mice
- A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics
- AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges
- AI driven analysis of MRI to measure health and disease progression in FSHD
- An open-label pilot study of losmapimod to evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments in participants with facioscapulohumeral muscular dystrophy type 1
- An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration
- Antagonism among DUX family members evolved from an ancestral toxic single homeodomain protein
- Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells
- Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1
- Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
- Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
- Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping
- Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
- Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
- Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting
- Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
- Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report
- Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing
- Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing
- Deletion of Dux ameliorates muscular dystrophy in mdx mice by attenuating oxidative stress via Nrf2
- Diagnoses of muscular dystrophy in a veterans health system
- DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis
- DUX4 expression in cancer induces a metastable early embryonic totipotent program
- Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis
- Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain
- Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level
- Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy
- Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy
- Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype
- Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
- Face to Face: deciphering facial involvement in inclusion body myositis
- Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities
- Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation
- Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study
- Facioscapulohumeral muscular dystrophy's game of homeodomains: therapy wants a biomarker as a sword wants a whetstone
- First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way
- Fitness and walking outcomes following aerobic and lower extremity strength training in facioscapulohumeral dystrophy: a case series
- Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
- French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)
- Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure
- Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure
- FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation
- Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact
- Herpesviruses mimic zygotic genome activation to promote viral replication
- Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene
- IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy
- In Silico Analysis of Rib Force Distribution in Post Scapulothoracic Arthrodesis Model
- In silico analysis of rib force distribution in postscapulothoracic arthrodesis model
- Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review
- Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder
- Late-onset myopathies
- Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom
- Living with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands
- Long-read sequencing improves diagnostic rate in neuromuscular disorders
- MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy
- Meeting report: The 2023 FSHD International Research Congress
- Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome
- Molecular and Phenotypic Changes in FLExDUX4 Mice
- Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping
- Molecular diagnostic yield of whole-exome sequencing in Saudi autistic children with epilepsy
- Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy
- Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy
- Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study
- Muscle strength, quantity and quality and muscle fat quantity and their association with oxidative stress in patients with facioscapulohumeral muscular dystrophy: Effect of antioxidant supplementation
- Non-ischemic priapism (post-traumatic arteriovenous fistula of the right cavernous body) in the background of Landusy-Dejerine myopathy
- Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges
- Optimization of Xenografting Methods for Generating Human Skeletal Muscle in Mice
- Participant experiences of guided self-help Acceptance and Commitment Therapy for improving quality of life in muscle disease: a nested qualitative study within the ACTMus randomized controlled trial
- Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy
- Progesterone may be a regulator and B12 could be an indicator of the proximal D4Z4 repeat methylation status on 4q35ter
- Proximal myopathy: causes and associated conditions
- Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases
- Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study
- Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression
- Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
- Scapulothoracic fusion using nonabsorbable suture fixation: surgical technique and review of the literature
- Scapulothoracic tenodesis using hamstring tendon graft for treatment of problematic scapula winging: A new surgical technique
- Single-cell spatial transcriptomics reveals a dystrophic trajectory following a developmental bifurcation of myoblast cell fates in facioscapulohumeral muscular dystrophy
- SMCHD1 activates the expression of genes required for the expansion of human myoblasts
- SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
- Systemic Pharmacotherapeutic Treatment of the ACTA1-MCM/FLExDUX4 Preclinical Mouse Model of FSHD
- Temporal course of cognitive and behavioural changes in motor neuron diseases
- The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up
- The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes
- The DUX4-HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected
- The endosomal escape vehicle platform enhances delivery of oligonucleotides in preclinical models of neuromuscular disorders
- The Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure
- The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
- The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy
- The lived experience of facioscapulohumeral muscular dystrophy: A systematic review and synthesis of the qualitative literature
- The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs
- The upper extremity functional index (UEFI): Italian validation in patients with Facioscapulohumeral muscular dystrophy
- Three-dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy
- Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies
- Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases
- Voluntary wheel running improves molecular and functional deficits in a murine model of facioscapulohumeral muscular dystrophy
- Whole exome sequencing highlights rare variants in <em>CTCF</em>, <em>DNMT1</em>, <em>DNMT3A</em>, <em>EZH2</em> and <em>SUV39H1</em> as associated with FSHD