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Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- Development and validation of the patient-reported "Facial Function Scale" for facioscapulohumeral muscular dystrophy. (2023/05/01) ♡
- 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. Management of spine deformity secondary to facioscapulohumeral dystrophy in pediatric patients. A case description and a literature review. (2023/05/01) ♡
- Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy. (2023/05/01) ♡
- 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials. (2023/05/01) ♡
- Winged Scapula: Clinical and Electrophysiological Features and Common Causes Based on 20 Years of Experience in a Referral Center in Turkey. (2023/05/01) ♡
- Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction. (2023/04/24) ♡
- 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. [Molecular Therapies of Hereditary Myopathies in Adulthood - a Cursive Overview]. (2023/04/01) ♡
- Cystatin C for kidney function assessment in patients with facioscapulohumeral muscular dystrophy. (2023/04/01) ♡
- Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy. (2023/03/30) ♡
- A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D. (2023/03/28) ♡
- Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study. (2023/03/15) ♡
- The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins. (2023/03/07) ♡
- Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series. (2023/03/04) ♡
- Neuromuscular disease: 2023 update. (2023/02/27) ♡
- Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral disease. (2023/02/24) ♡
- DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose. (2023/02/17) ♡
- Erector Spinae Plane Block for Scapulothoracic Arthrodesis for Facioscapulohumeral Dystrophy Patients: A Case Series. (2023/02/10) ♡
- Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism. (2023/02/02) ♡
- De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. (2023/02/01) ♡
- Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients. (2023/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anticipation Avoids Adversity: Anesthetic Management of a Case of Facioscapulohumeral Dystrophy (FSHD). (2023/01/31) ♡
- Antagonism among DUX family members evolved from an ancestral toxic single homeodomain protein. (2023/01/22) ♡
- 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22-24 April 2022, Hoofddorp, The Netherlands. (2023/01/01) ♡
- Correlation between whole body muscle MRI and functional measures in paediatric patients with facioscapulohumeral muscular dystrophy. (2023/01/01) ♡
- Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping. (2023/01/01) ♡
- Facioscapulohumeral Disease as a myodevelopmental disease: Applying Ockham's razor to its various features. (2023/01/01) ♡
- The Muscular Dystrophy Association's neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations. (2023/01/01) ♡
- A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics. (2023/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Dietary Folic Acid Supplementation Inhibits HighFat DietInduced Body Weight Gain through Gut Microbiota-Associated Branched-Chain Amino Acids and Mitochondria in Mice. (2023/01/01) ♡
- Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review. (2023/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Participants With Limb Girdle and Facioscapulohumeral Muscular Dystrophy (FSHD) (2023-12-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 (2023-11-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 (2023-11-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy (2023-10-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluate Safety and Biological Activity of ATYR1940 in Participants With Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Facioscapulohumeral Muscular Dystrophy (FSHD) (2023-10-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics (2023-10-17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia) (2023-10-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension (2023-08-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort (2023-08-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography. (2023-07-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Testosterone and rHGH in FSHD (2023-05-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD (2023-02-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Understanding Control and Mechanisms of Shoulder Instability in FSHD (2023-02-01) ♡
- 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. Proximal myopathy: causes and associated conditions. (2022/12/31) ♡
- Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies. (2022/12/27) ♡
- D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients. (2022/12/18) ♡
- Management of scapular dysfunction in facioscapulohumeral muscular dystrophy: the biomechanics of winging, arthrodesis indications, techniques and outcomes. (2022/12/07) ♡
- 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. Quality of instruments assessing activity and participation of people with muscular dystrophy: A systematic review of participant-reported outcome measures. (2022/12/01) ♡
- Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy. (2022/12/01) ♡
- 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 Dystrophy. (2022/12/01) ♡
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