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Facioscapulohumeral dystrophy (FSHD)

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchOnly the strongest evidence (27)Meta-analysis (5)Treatment guideline (1)Systematic review (11)Randomized trial (8)Phase 3 study (2)Clinical trial (105)Review article (127)Early study (phase 1 or 2) (12)Single patient description (76)Laboratory or animal study (29)Commentary or editorial (40) Only studies currently recruiting participants (28)

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Publications and studies (978)

• Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity. (2020/04/11) ♡
• Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies. (2020/04/10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy. (2020/04/07) ♡
• SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres. (2020/04/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review. (2020/04/01) ♡
• Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms. (2020/04/01) ♡
• Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. (2020/03/25) ♡
• Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. (2020/03/23) ♡
• DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD. (2020/03/01) ♡
• A hospital based epidemiological study of genetically determined muscle disease in south western Norway. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report. (2020/03/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Does DNA Methylation Matter in FSHD? (2020/02/28) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation]. (2020/02/10) ♡
• Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD). (2020/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping. (2020/02/01) ♡
• Myopathies presenting with head drop: Clinical spectrum and treatment outcomes. (2020/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to J. Dulski and J. Slawek's "Fibrodysplasia ossificans progressiva as a form of pseudodystonia". (2020/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal fusion in facioscapulohumeral dystrophy for hyperlordosis: A case report. (2020/02/01) ♡
• Updating the Clinical Picture of Facioscapulohumeral Muscular Dystrophy: Ramifications for Drug Development With Potential Solutions. (2020/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. A Comment on "Muscle Xenografts Reproduce Key Molecular Features of Facioscapulohumeral Muscular Dystrophy": What Is New and What Has Already been Done and Reported but Was Not Quoted? (2020/01/01) ♡
• Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD. (2020/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of a Textile Scapula Orthosis (2020-12-16) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) (2020-02-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Arm Cycling in Facioscapulohumeral Dystrophy (FSHD) Patients (2020-02-12) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. DNA methylation in satellite repeats disorders. (2019/12/20) ♡
• Identification of the hyaluronic acid pathway as a therapeutic target for facioscapulohumeral muscular dystrophy. (2019/12/11) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Strength training and aerobic exercise training for muscle disease. (2019/12/06) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region. (2019/12/02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations. (2019/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle. (2019/12/01) ♡
• Respiratory muscle weakness in facioscapulohumeral muscular dystrophy. (2019/12/01) ♡
• The variability of SMCHD1 gene in FSHD patients: evidence of new mutations. (2019/12/01) ♡
• DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double-stranded RNA foci in human cell models of FSHD. (2019/12/01) ♡
• Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging. (2019/12/01) ♡
• Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing. (2019/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia. (2019/12/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Facioscapulohumeral Muscular Dystrophies. (2019/12/01) ♡
• The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies. (2019/11/19) ♡
• DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression. (2019/11/12) ♡
• [Inpatients with facioscapulohumeral muscular dystrophy in specialized institutions in Japan from 1999 to 2013-Clinical condition changes and causes of death]. (2019/11/08) ♡
• A pilot study of the responsiveness of wireless motion analysis in facioscapulohumeral muscular dystrophy. (2019/11/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy - A systematic review and evidence synthesis. (2019/11/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. [Marseille welcomes the FSHD Society International Research Conference]. (2019/11/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Self-management program improves participation in patients with neuromuscular disease: A randomized controlled trial. (2019/10/29) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Reaching People With Disabilities in Underserved Areas Through Digital Interventions: Systematic Review. (2019/10/25) ♡
• Ophthalmological findings in facioscapulohumeral dystrophy. (2019/10/11) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Anatomical Surgical Outcomes of Patients With Advanced Coats Disease and Coats-Like Detachments: Review of Literature, Novel Surgical Technique, and Subset Analysis in Patients With Facioscapulohumeral Muscular Dystrophy. (2019/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. AAV-based gene therapies for the muscular dystrophies. (2019/10/01) ♡
• SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. (2019/10/01) ♡
• Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy. (2019/10/01) ♡

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