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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)

• The DUX4 homeodomains mediate inhibition of myogenesis and are functionally exchangeable with the Pax7 homeodomain. (2017/11/01) ♡
• Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy. (2017/11/01) ♡
• The relative frequency of common neuromuscular diagnoses in a reference center. (2017/11/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Increased FSHD region gene1 expression reduces in vitro cell migration, invasion, and angiogenesis, ex vivo supported by reduced expression in tumors. (2017/10/27) ♡
• Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. (2017/10/01) ♡
• 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. p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy. (2017/10/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model. (2017/09/15) ♡
• 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. Facioscapulohumeral Muscular Dystrophy. (2017/09/12) ♡
• BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells. (2017/09/04) ♡
• Fatigue in facioscapulohumeral muscular dystrophy: a qualitative study of people's experiences. (2017/09/01) ♡
• Abnormal spontaneous activity in primary myopathic disorders. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy. (2017/09/01) ♡
• A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD. (2017/09/01) ♡
• 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. Global muscular dystrophy research: A 25-year bibliometric perspective. (2017/09/01) ♡
• Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study. (2017/08/25) ♡
• Combined quantification of fatty infiltration, T (1)-relaxation times and T (2)*-relaxation times in normal-appearing skeletal muscle of controls and dystrophic patients. (2017/08/01) ♡
• 225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands. (2017/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Surgical correction of hyperlordosis in facioscapulohumeral muscular dystrophy: A case report. (2017/07/17) ♡
• Cognitive behavioural therapy for reducing fatigue in post-polio syndrome and in facioscapulohumeral dystrophy: A comparison. (2017/07/07) ♡
• 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. Emerging roles of macrosatellite repeats in genome organization and disease development. (2017/07/03) ♡
• Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures. (2017/06/21) ♡
• SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes. (2017/06/06) ♡
• Respiratory function in facioscapulohumeral muscular dystrophy 1. (2017/06/01) ♡
• Conservation and innovation in the DUX4-family gene network. (2017/06/01) ♡
• 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. High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial. (2017/06/01) ♡
• Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy. (2017/06/01) ♡
• What's in the Literature? (2017/06/01) ♡
• Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. (2017/06/01) ♡
• 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. Current status and future prospect of FSHD region gene 1. (2017/06/01) ♡
• It's not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy. (2017/05/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Abnormal lipid metabolism in skeletal muscle tissue of patients with muscular dystrophy: In vitro, high-resolution NMR spectroscopy based observation in early phase of the disease. (2017/05/01) ♡
• Long-term results of Letournel scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A retrospective study of eight cases. (2017/05/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Respiratory pattern in a FSHD pediatric population. (2017/05/01) ♡
• Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy. (2017/05/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Respiratory pattern in a FSHD paediatric population. (2017/05/01) ♡
• Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity. (2017/04/03) ♡
• Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases. (2017/04/01) ♡
• Short-term Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients. (2017/04/01) ♡
• 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. The Epigenetic Regulator SMCHD1 in Development and Disease. (2017/04/01) ♡
• DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy. (2017/03/08) ♡
• Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). (2017/03/03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy. (2017/03/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients. (2017/03/01) ♡
• Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy. (2017/03/01) ♡
• Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy. (2017/02/15) ♡
• Upper limb function and activity in people with facioscapulohumeral muscular dystrophy: a web-based survey. (2017/02/01) ♡
• The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. (2017/02/01) ♡
• SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. (2017/02/01) ♡
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. (2017/02/01) ♡
• Reliability of home-based, motor function measure in hereditary neuromuscular diseases. (2017/02/01) ♡

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