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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)

• Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy. (2019/01/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. (2019/01/15) ♡
• Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy. (2019/01/15) ♡
• 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 case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association? (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report. (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Case Report on Use of Cog Threads and Dermal Fillers for Facial-Lifting in Facioscapulohumeral Muscular Dystrophy. (2019/01/01) ♡
• [Morphological characteristics of paravertebral muscles in patients with scoliosis caused by primaryprogressive muscular dystrophies]. (2019/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bone Health in Facioscapulohumeral Muscular Dystrophy (2019-11-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Facioscapulohumeral Dystrophy in Children (2019-09-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Acceptance and Commitment Therapy for Muscle Disease (2019-08-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial (2019-05-09) ♡
• Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA. (2018/12/11) ♡
• The French National Registry of patients with Facioscapulohumeral muscular dystrophy. (2018/12/04) ♡
• A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4. (2018/12/01) ♡
• Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552(∗)). (2018/12/01) ♡
• Relationships between muscle size, strength, and physical activity in adults with muscular dystrophy. (2018/12/01) ♡
• Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD. (2018/11/28) ♡
• Low level DUX4 expression disrupts myogenesis through deregulation of myogenic gene expression. (2018/11/16) ♡
• Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011. (2018/11/15) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. (2018/11/15) ♡
• Structural basis for multiple gene regulation by human DUX4. (2018/11/10) ♡
• Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study. (2018/11/01) ♡
• Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers. (2018/11/01) ♡
• Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. (2018/11/01) ♡
• [Non-verbal communication in patients with DM1 and FSHD]. (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. [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) ♡

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