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Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- Commentary or editorialiAn expert's opinion or commentary, not new research. Mortality in facioscapulohumeral muscular dystrophy requires exclusion of mitochondrial and other neuromuscular differentials. (2026/10/15) ♡
- 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. Mortality associated with facioscapulohumeral muscular dystrophy: A systematic literature review. (2026/08/15) ♡
- The Russian FSHD registry: a first look at the cohort. (2026/08/08) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lipid nanoparticle delivery of antisense gapmers attenuates pathology in a mouse model of facioscapulohumeral muscular dystrophy. (2026/08/05) ♡
- Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound. (2026/08/05) ♡
- 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. Systematic review of outcome measures in facioscapulohumeral dystrophy (FSHD): validated, usable, and feasible tools for assessing function, performance, and strength. (2026/08/01) ♡
- 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. A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment. (2026/08/01) ♡
- Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye. (2026/07/24) ♡
- Differential expression of microRNAs and other small RNAs in the serum of patients with myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy type 1. (2026/07/24) ♡
- 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. Living with FSHD: a patient-led narrative review of psychosocial well-being in facioscapulohumeral muscular dystrophy. (2026/07/16) ♡
- 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. Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies. (2026/07/16) ♡
- Quantitative analysis of level-specific fusion outcomes and scapular positioning in scapulothoracic arthrodesis. (2026/07/11) ♡
- 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. Nanoparticle therapeutics in FSHD: current research and future perspectives. (2026/07/09) ♡
- 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. Epigenetic editing approaches maturity: AI-driven precision design, delivery innovation, and the road to clinical translation. (2026/07/09) ♡
- Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies. (2026/07/04) ♡
- 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. Physical exercise in facioscapulohumeral muscular dystrophy: state of the art and future challenges beyond common misconceptions. (2026/07/02) ♡
- MYH2 as a Potential Modifier of Clinical Severity in Facioscapulohumeral Muscular Dystrophy. (2026/07/02) ♡
- 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. A toolkit for new facioscapulohumeral muscular dystrophy trial sites. (2026/07/01) ♡
- 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. From preconception to parenting: reproductive health and pregnancy care in facioscapulohumeral muscular dystrophy. (2026/07/01) ♡
- 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. Quantitative whole-body MRI in FSHD: assessing systemic involvement and future directions. (2026/07/01) ♡
- Radiological Beevor's sign in facioscapulohumeral muscular dystrophy. (2026/06/22) ♡
- Selective interaction of SMCHD1 with chromatin is governed by LRIF1 and SMCHD1 ATPase activity. (2026/06/16) ♡
- Identification of compounds that repress DUX4 expression in facioscapulohumeral muscular dystrophy. (2026/06/16) ♡
- Medical Claim Costs of Facioscapulohumeral Muscular Dystrophy in the United States. (2026/06/16) ♡
- Diagnostic utility of inflammatory markers in formalin-fixed and paraffin-embedded muscle biopsies for idiopathic inflammatory myopathies. (2026/06/10) ♡
- The emergence and diversification of the DUX gene family across placental mammals. (2026/06/05) ♡
- A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4C. (2026/06/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy. (2026/06/01) ♡
- Phonatory assessments in patients with slowly progressive neuromuscular disorders: a new tool for evaluating inspiratory muscle dysfunction. (2026/06/01) ♡
- Development and Validation of a Deep Learning-Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy. (2026/06/01) ♡
- 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. Respiratory insufficiency and sleep impairment in facioscapulohumeral muscular dystrophy. (2026/06/01) ♡
- KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity. (2026/06/01) ♡
- 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. Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework. (2026/06/01) ♡
- 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. Spatiotemporal DUX4 toxicity in FSHD: from epigenetic derepression to biomarker-driven targeted therapies. (2026/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe Focal Abdominal Weakness Presenting as an Abdominal Hernia. (2026/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Atypical Focal Axial Presentation of Facioscapulohumeral Muscular Dystrophy Type 1. (2026/06/01) ♡
- Co-contraction of shoulder and upper extremity muscles in individuals with muscle dystrophy compared to healthy persons during reaching-to-target tasks. (2026/06/01) ♡
- 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. RNA Therapeutics Targeting Skeletal Muscle: Emerging Antisense and Gene-Modifying Strategies. (2026/05/28) ♡
- Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD. (2026/05/20) ♡
- Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy. (2026/05/15) ♡
- Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity. (2026/05/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Long-read sequencing and the evolving landscape of facioscapulohumeral muscular dystrophy diagnosis. (2026/05/05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy. (2026/05/01) ♡
- Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients. (2026/05/01) ♡
- A pilot study using actigraphy to examine activity performance and its relationship with activity capacity in adults with facioscapulohumeral muscular dystrophy. (2026/05/01) ♡
- 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. Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials. (2026/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Late-onset facioscapulohumeral muscular dystrophy defines a distinct clinical subgroup. (2026/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The importance of patient engagement in scientific research on facioscapulohumeral muscular dystrophy. (2026/05/01) ♡
- Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology. (2026/05/01) ♡
- Personalized antioxidant supplementation improves muscle strength, physical activity, and quality of life in patients with FSHD1: A real-world longitudinal study. (2026/05/01) ♡
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