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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 (886)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Can acupuncture help relieve muscle pain in muscular dystrophy?]. (2018/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2. (2018/10/15) ♡
• 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. Exercise in muscle disorders: what is our current state? (2018/10/01) ♡
• 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. [Innovative therapeutic approaches for hereditary neuromuscular diseases]. (2018/10/01) ♡
• 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. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. (2018/10/01) ♡
• A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy. (2018/09/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy. (2018/09/20) ♡
• 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. Immunobiology of Inherited Muscular Dystrophies. (2018/09/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Unique Case of Type-1 Facioscapulohumeral Muscular Dystrophy and Sarcomeric Hypertrophic Cardiomyopathy. (2018/09/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Is Going Beyond Rasch Analysis Necessary to Assess the Construct Validity of a Motor Function Scale? (2018/09/01) ♡
• A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy. (2018/09/01) ♡
• Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele. (2018/08/20) ♡
• FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. (2018/08/07) ♡
• Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage. (2018/08/02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study. (2018/08/01) ♡
• 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 dystrophy: activating an early embryonic transcriptional program in human skeletal muscle. (2018/08/01) ♡
• Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures. (2018/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. (2018/08/01) ♡
• A Pediatric Review of Facioscapulohumeral Muscular Dystrophy. (2018/08/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. (2018/07/31) ♡
• Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy. (2018/07/27) ♡
• Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy. (2018/07/05) ♡
• Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. (2018/07/01) ♡
• Novel key roles for structural maintenance of chromosome flexible domain containing 1 (Smchd1) during preimplantation mouse development. (2018/07/01) ♡
• Long-term results of scapulothoracic arthrodesis with multiple cable method for facioscapulohumeral dystrophy: do the results deteriorate over time? (2018/07/01) ♡
• FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. (2018/06/22) ♡
• MRI change metrics of facioscapulohumeral muscular dystrophy: Stir and T1. (2018/06/01) ♡
• Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. (2018/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Magnetic resonance imaging in facioscapulohumeral muscular dystrophy. (2018/06/01) ♡
• Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy. (2018/06/01) ♡
• 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. Muscular Dystrophies. (2018/06/01) ♡
• 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. Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy. (2018/05/03) ♡
• Functional domains of the FSHD-associated DUX4 protein. (2018/04/26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A multinational study on motor function in early-onset FSHD. (2018/04/10) ♡
• Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy. (2018/04/01) ♡
• Telemedicine for Facio-Scapulo-Humeral Muscular Dystrophy: A multidisciplinary approach to improve quality of life and reduce hospitalization rate? (2018/04/01) ♡
• Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. (2018/04/01) ♡
• Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy. (2018/04/01) ♡
• Charles E. Beevor's lasting contributions to neurology: More than just a sign. (2018/03/13) ♡
• NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins. (2018/03/13) ♡
• An instrumented timed up and go in facioscapulohumeral muscular dystrophy. (2018/03/01) ♡
• Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. (2018/03/01) ♡
• Evaluation of activities of daily living in patients with slowly progressive neuromuscular diseases. (2018/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Perturbation of muscle metabolism in patients with muscular dystrophy in early or acute phase of disease: In vitro, high resolution NMR spectroscopy based analysis. (2018/03/01) ♡
• Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis. (2018/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. (2018/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hypoglycemia in a Patient With Facioscapulohumeral Muscular Dystrophy. (2018/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model. (2018/02/15) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. (2018/02/07) ♡
• Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy. (2018/02/01) ♡

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