Disease: Facioscapulohumeral muscular dystrophy 1a
- A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
- Adding quantitative muscle MRI to the FSHD clinical trial toolbox
- Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)
- An epigenetic basis for genetic anticipation in 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
- Application of the Bgl II-Bln I dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene
- Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy
- Cervical dystonia associated with facioscapulohumeral dystrophy: expanding the clinical spectrum?
- Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
- Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
- Clinical and genetic characteristics of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1
- Clinical predominance of proximal upper limb weakness in CMT1A syndrome
- Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
- Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size
- Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy
- Direct interplay between two candidate genes in FSHD muscular dystrophy
- Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data
- Early-onset facioscapulohumeral muscular dystrophy: two case reports
- Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review
- Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype
- Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study
- Facioscapulohumeral muscular dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report
- Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms
- Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes
- Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study
- Frequency of reported pain in adult males with muscular dystrophy
- Genetic and epigenetic contributors to FSHD
- High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial
- High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
- Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy
- Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment
- Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series
- Intronic <em>SMCHD1</em> variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder
- Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy Types 1 and 2
- Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
- Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy
- Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges
- p38<em>α</em> Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy
- Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population
- Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
- Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study
- Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-sectional Analysis
- Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1
- Reply: Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population
- Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1
- RESPONSE TO LETTER TO THE EDITOR "AUDITORY DYSFUNCTION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 1: BEYOND THE INNER EAR INVOLVEMENT" BY GHELLER ET AL
- RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy
- Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
- Scapular winging: an update
- Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing
- Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
- Specific type of Landouzy-Dejerine muscular dystrophy
- Teaching video neuroimages: Beevor sign: when the umbilicus is pointing to neurologic disease
- The "wrench-head" appearance of thigh muscle CT in infantile facioscapulohumeral muscular dystrophy
- The muscular dystrophies
- Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
- Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A
- Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population