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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- Elevated labile iron contributes to membrane repair deficits in facioscapulohumeral muscular dystrophy. (2026/04/17) ♡
- The mutational burden in os odontoideum patients. (2026/04/14) ♡
- Whether the ratio echogenicity of the trapezius to the supraspinatus muscle is actually increased in FSHD requires studies on large, homogeneous groups. (2026/04/14) ♡
- Development of a DUX4-targeting antibody oligonucleotide conjugate as a therapy for FSHD. (2026/04/13) ♡
- 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. Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review. (2026/04/10) ♡
- Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End. (2026/04/07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. (2026/04/02) ♡
- Different operationalizations of the capability approach in evaluating rehabilitation for persons with neuromuscular diseases: a mixed-methods study. (2026/04/01) ♡
- 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. Overview of facioscapulohumeral dystrophy clinical features and diagnostic pathway. (2026/04/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Development of in vitro potency assays for AAV-based gene silencing therapies targeting FSHD and CMT1A. (2026/04/01) ♡
- 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. Measuring health-related quality of life in facioscapulohumeral muscular dystrophy: a COSMIN systematic review and conceptual framework. (2026/03/26) ♡
- Identification of compounds that repress DUX4 expression in facioscapulohumeral muscular dystrophy. (2026/03/17) ♡
- Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy. (2026/03/16) ♡
- Phase separation of DUX family proteins drives totipotent-like state via 3D genome reorganization and retrotransposon activation. (2026/03/14) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Frequent co-occurrence of AChR-positive myasthenia gravis in facioscapulohumeral muscular dystrophy suggests a novel disease association. (2026/03/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hearing, Voice and Speech Disorders in 10-Year-Old Boy with Facioscapulohumeral Dystrophy (FSHD) - Case Study. (2026/03/07) ♡
- 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. Antisense RNA therapies for muscular dystrophies. (2026/03/01) ♡
- Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies. (2026/03/01) ♡
- Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats. (2026/03/01) ♡
- Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort. (2026/03/01) ♡
- 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. What Is in the Myopathy Literature? (2026/03/01) ♡
- Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience. (2026/02/25) ♡
- RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD. (2026/02/25) ♡
- SMCHD1 loss re-wires MYOD1 enhancer nexuses and chromatin accessibility landscapes in muscle cells. (2026/02/22) ♡
- Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy. (2026/02/09) ♡
- A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study. (2026/02/06) ♡
- DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD). (2026/02/06) ♡
- Facial Weakness in Facioscapulohumeral Muscular Dystrophy: Objective and Patient-Reported Measures to Guide Reconstructive Interventions. (2026/02/04) ♡
- DUX4-induced HSATII RNA accumulation drives protein aggregation, impacting RNA processing pathways. (2026/02/02) ♡
- The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulohumeral Muscular Dystrophy Cases. (2026/02/01) ♡
- Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses. (2026/02/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Response to Letter to the Editor: Explanation of Surveillance Data Used in Hearing Loss, Retinal Abnormality, and Seizures in Facioscapulohumeral Muscular Dystrophy Study. (2026/02/01) ♡
- Ultrasound Contrast between the Trapezius and Supraspinatus Muscles as a Potentially Specific Finding of Facioscapulohumeral Muscular Dystrophy. (2026/02/01) ♡
- Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies. (2026/02/01) ♡
- Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability. (2026/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy. (2026/01/29) ♡
- 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. Role of cardiovascular magnetic resonance in diagnosis and management of muscular dystrophies. (2026/01/16) ♡
- 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 therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances. (2026/01/12) ♡
- Chemical inhibition of SUMOylation activates the FSHD locus. (2026/01/09) ♡
- The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up. (2026/01/01) ♡
- Meeting report: The FSHD society 2025 international research congress. (2026/01/01) ♡
- 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. Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature. (2026/01/01) ♡
- 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. Study of ARO-DUX4 in Adult and Adolescent Patients With Facioscapulohumeral Muscular Dystrophy Type 1 (2026-08-11) ♡
- 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. Phase 2 Study Evaluating Apitegromab for the Treatment of FSHD (2026-08-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy (2026-08-05) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD (2026-07-27) ♡
- 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. A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy (2026-07-20) ♡
- 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. Phase 1/2 Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (2026-07-16) ♡
- 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. Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (2026-07-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Dietary Protein Requirements in Adults With Facioscapulohumeral Muscular Dystrophy (2026-07-09) ♡
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