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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)

• Kinematic analysis of scapular movements in patients with facioscapulohumeral muscular dystrophy. (2018/02/01) ♡
• Facioscapulohumeral muscular dystrophy functional composite outcome measure. (2018/01/30) ♡
• Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei. (2018/01/12) ♡
• 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. Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies. (2018/01/01) ♡
• Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. (2018/01/01) ♡
• Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. (2018/01/01) ♡
• 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. (2018/01/01) ♡
• Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies. (2018/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders. (2018/01/01) ♡
• Antisense Oligonucleotide Targeting of 3'-UTR of mRNA for Expression Knockdown. (2018/01/01) ♡
• 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. Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies. (2018/01/01) ♡
• Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. (2017/12/24) ♡
• PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle. (2017/12/18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bone health in facioscapulohumeral muscular dystrophy: A cross-sectional study. (2017/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Axillary nerve block for a wrist fracture in a patient with facioscapulohumeral (Landouzy-Dejerine) disease. (2017/12/01) ♡
• Different profiles of upper limb function in four types of neuromuscular disorders. (2017/12/01) ♡
• 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. Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data. (2017/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unusual Case of Facioscapulohumeral Dystrophy. (2017/12/01) ♡
• Adding quantitative muscle MRI to the FSHD clinical trial toolbox. (2017/11/14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ultrasound Imaging of Muscle Contraction of the Tibialis Anterior in Patients with Facioscapulohumeral Dystrophy. (2017/11/01) ♡
• 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. Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? (2017/11/01) ♡
• 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) ♡

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