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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)

• Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans. (2019/10/01) ♡
• Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients. (2019/10/01) ♡
• 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. 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019. (2019/10/01) ♡
• Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD). (2019/09/17) ♡
• A novel P300 inhibitor reverses DUX4-mediated global histone H3 hyperacetylation, target gene expression, and cell death. (2019/09/11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. (2019/09/10) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. The Good, The Bad, and The Unexpected: Roles of DUX4 in Health and Disease. (2019/09/09) ♡
• Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy. (2019/09/01) ♡
• Sleep-related breathing disorders in facioscapulohumeral dystrophy. (2019/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. (2019/09/01) ♡
• 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. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy. (2019/08/31) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. The best care for children with facioscapulohumeral dystrophy. (2019/08/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy. (2019/08/01) ♡
• Correction to: Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy. (2019/08/01) ♡
• Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy. (2019/08/01) ♡
• Superficial Shoulder Muscle Synergy Analysis in Facioscapulohumeral Dystrophy During Humeral Elevation Tasks. (2019/08/01) ♡
• Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood. (2019/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Preliminary Evidences of Safety and Efficacy of Flavonoids- and Omega 3-Based Compound for Muscular Dystrophies Treatment: A Randomized Double-Blind Placebo Controlled Pilot Clinical Trial. (2019/07/23) ♡
• Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy. (2019/07/17) ♡
• A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1. (2019/07/10) ♡
• PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level. (2019/07/01) ♡
• Longitudinal study of upper extremity reachable workspace in fascioscapulohumeral muscular dystrophy. (2019/07/01) ♡
• The development of myasthenia gravis in a patient with facioscapulohumeral muscular dystrophy: case report and literature review. (2019/06/19) ♡
• Correction to: Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance. (2019/06/03) ♡
• Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. (2019/06/01) ♡
• 4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy. (2019/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Selective Fatty Replacement of Paraspinal Muscles in Facioscapulohumeral Muscular Dystrophy. (2019/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. FSHD1 or FSHD2: That is the question: The answer: It's all just FSHD. (2019/05/07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. FSHD1 and FSHD2 form a disease continuum. (2019/05/07) ♡
• 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. Advances in imaging of brain abnormalities in neuromuscular disease. (2019/05/06) ♡
• Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy. (2019/05/01) ♡
• 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 (FSHD) molecular diagnosis: from traditional technology to the NGS era. (2019/05/01) ♡
• Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance. (2019/04/29) ♡
• Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy. (2019/04/15) ♡
• SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. (2019/04/08) ♡
• Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development. (2019/04/01) ♡
• Motor unit recruitment in myopathy: The myopathic EMG reconsidered. (2019/04/01) ♡
• Long-read single-molecule maps of the functional methylome. (2019/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Acupuncture Improves the Facial Muscular Function in a Case of Facioscapulohumeral Muscular Dystrophy. (2019/04/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. (2019/03/26) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. (2019/03/26) ♡
• 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. Genotype-phenotype correlations in FSHD. (2019/03/13) ♡
• [Skeletal muscle MRI of lower limbs in patients with facioscapulohumeral dystrophy]. (2019/03/05) ♡
• Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree. (2019/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine. (2019/03/01) ♡
• Effects of weakness of orofacial muscles on swallowing and communication in FSHD. (2019/02/26) ♡
• Frequency of reported pain in adult males with muscular dystrophy. (2019/02/14) ♡
• MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy. (2019/02/01) ♡
• 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. Management strategies in facioscapulohumeral muscular dystrophy. (2019/02/01) ♡

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