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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)

• Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis. (2022/04/25) ♡
• Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach. (2022/04/20) ♡
• Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning. (2022/04/01) ♡
• Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing data. (2022/04/01) ♡
• 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. Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort. (2022/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1. (2022/04/01) ♡
• Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy. (2022/04/01) ♡
• Serum miRNAs as biomarkers for the rare types of muscular dystrophy. (2022/04/01) ♡
• Baroreflex sensitivity in facioscapulohumeral muscular dystrophy. (2022/04/01) ♡
• Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. (2022/03/29) ♡
• Spatio-temporal gait differences in facioscapulohumeral muscular dystrophy during single and dual task overground walking - A pilot study. (2022/03/19) ♡
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies. (2022/03/18) ♡
• High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect. (2022/03/03) ♡
• Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy. (2022/03/02) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. AUDITORY DYSFUNCTION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 1: BEYOND THE INNER EAR INVOLVEMENT. (2022/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. RESPONSE TO LETTER TO THE EDITOR "AUDITORY DYSFUNCTION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 1: BEYOND THE INNER EAR INVOLVEMENT" BY GHELLER ET AL. (2022/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Risks and rewards of big-data in epigenomics research: an interview with Melanie Ehrlich. (2022/03/01) ♡
• Orofacial Manifestations Associated with Muscular Dystrophies: A Review. (2022/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient. (2022/02/28) ♡
• 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. Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies. (2022/02/21) ♡
• Considerations and practical implications of performing a phenotypic CRISPR/Cas survival screen. (2022/02/17) ♡
• 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. Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials. (2022/02/16) ♡
• Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, γH2AX accumulation, and Bax/Bak-dependence. (2022/02/15) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Persistent Fibroadipogenic Progenitor Expansion Following Transient DUX4 Expression Provokes a Profibrotic State in a Mouse Model for FSHD. (2022/02/11) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene. (2022/02/01) ♡
• 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. Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease. (2022/02/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Home-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy. (2022/02/01) ♡
• Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres. (2022/02/01) ♡
• Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers. (2022/01/26) ♡
• iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling. (2022/01/25) ♡
• 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. Meeting report: the 2021 FSHD International Research Congress. (2022/01/17) ♡
• Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients. (2022/01/11) ♡
• 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. Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview. (2022/01/01) ♡
• Analysis of DUX4 Expression in Bone Marrow and Re-Discussion of DUX4 Function in the Health and Disease. (2022/01/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of Human iPSC-Derived Myotubes to Investigate RNA-Based Therapies In Vitro. (2022/01/01) ♡
• Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. (2022/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Feasibility and Safety of Applying the Functional Electrical Stimulation to Child with Facioscapulohumeral Dystrophy: A Case Report. (2022/01/01) ♡
• Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic. (2022/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Examination of Operative Approach in pwFSHD (Patient With Facioscapulohumeral Muscular Dystrophy) (2022-11-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX) (2022-09-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) (2022-09-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders (2022-08-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Digital Biotyping of FSHD Patients and Controls (2022-03-09) ♡
• Care for capabilities: Implementing the capability approach in rehabilitation of patients with neuromuscular diseases. Study protocol of the controlled before-after ReCap-NMD study. (2021/12/21) ♡
• Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies. (2021/12/17) ♡
• Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy. (2021/12/16) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Random forest: random results or meaningful insights for patients with facioscapulohumeral muscular dystrophy? (2021/12/16) ♡
• Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. (2021/12/08) ♡
• A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression. (2021/12/08) ♡
• 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. Phase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: Safety, tolerability, pharmacokinetics, and target engagement. (2021/12/01) ♡

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