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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)

• 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) ♡
• 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) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD (2018-09-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Rasch-analysis of Clinical Severity in FSHD (2018-04-12) ♡
• 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) ♡

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