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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications (886)
- SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. (2025/06/01) ♡
- Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study. (2025/06/01) ♡
- 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. Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double-blind placebo-controlled crossover trial. (2025/06/01) ♡
- Increased METTL3 Expression and m6A Methylation in Myoblasts of Facioscapulohumeral Muscular Dystrophy. (2025/05/28) ♡
- Dux Is Dispensable for Skeletal Muscle Regeneration: A Study Inspired by a "Red Flagged" Publication and Editorial Oversight. (2025/05/12) ♡
- DUX4 activates common and context-specific intergenic transcripts and isoforms. (2025/05/09) ♡
- Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length. (2025/05/04) ♡
- 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. Management of FSHD symptoms: current assistive technologies and pharmacological approaches. (2025/05/01) ♡
- 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. Physical training of wheelchair users with neuromuscular disorders: A systematic review. (2025/05/01) ♡
- The participants' perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands - A qualitative study. (2025/05/01) ♡
- Sarcolemmal dysfunction in facioscapulohumeral dystrophy: An assessment using muscle velocity recovery cycles. (2025/05/01) ♡
- 4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype. (2025/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Retinopathy associated with facioscapulohumeral muscular dystrophy. A case report treated with intravitreal dexamethasone implant and laser photocoagulation. (2025/05/01) ♡
- Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis. (2025/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case report. (2025/05/01) ♡
- 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. Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM). (2025/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Visual Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD). (2025/04/18) ♡
- Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine. (2025/04/16) ♡
- 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. Transposon expression and repression in skeletal muscle. (2025/04/11) ♡
- Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study. (2025/04/02) ♡
- Determination of Tissue Potassium and Sodium Concentrations in Dystrophic Skeletal Muscle Tissue Using Combined Potassium ((39)K) and Sodium ((23)Na) MRI at 7 T. (2025/04/01) ♡
- Machine learning-driven Heckmatt grading in facioscapulohumeral muscular dystrophy: A novel pathway for musculoskeletal ultrasound analysis. (2025/04/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Proteomic profiling uncovers sexual dimorphism in the muscle response to wheel running exercise in the FLExDUX4 murine model of facioscapulohumeral muscular dystrophy. (2025/03/17) ♡
- 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. State-of-the-Art and Future Challenges for Nutritional Interventions in Facioscapulohumeral Dystrophy: A Narrative Review. (2025/03/17) ♡
- Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report. (2025/03/06) ♡
- Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with FSHD. (2025/03/01) ♡
- Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy. (2025/03/01) ♡
- Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. (2025/03/01) ♡
- 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. Deciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now? (2025/03/01) ♡
- Multi-scale machine learning model predicts muscle and functional disease progression in FSHD. (2025/02/20) ♡
- The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping. (2025/02/11) ♡
- Utility of Optical Genome Mapping in Repeat Disorders. (2025/02/01) ♡
- Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset Facioscapulohumeral muscular dystrophy type 1. (2025/01/30) ♡
- Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study. (2025/01/14) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report. (2025/01/07) ♡
- 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. AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges. (2025/01/01) ♡
- Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy. (2025/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Muscular dystrophy as a cause of unilateral scapular winging. (2025/01/01) ♡
- A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials. (2025/01/01) ♡
- Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network. (2025/01/01) ♡
- 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. Muscular Dystrophies. (2025/01/01) ♡
- AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot. (2024/12/27) ♡
- Sustained efficacy of CRISPR-Cas13b gene therapy for FSHD is challenged by immune response to Cas13b. (2024/12/19) ♡
- Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1. (2024/12/13) ♡
- SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy. (2024/12/03) ♡
- Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study. (2024/12/01) ♡
- Ultrarare Muscular Dystrophy Mimics Facioscapulohumeral Muscular Dystrophy. (2024/12/01) ♡
- Identification of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy. (2024/11/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing. (2024/11/25) ♡
- Lrif1 modulates Trim28-mediated repression of the Dux locus in mouse embryonic stem cells. (2024/11/18) ♡
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