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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)

• Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology. (2025/08/28) ♡
• Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. (2025/08/27) ♡
• 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. Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing. (2025/08/26) ♡
• 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. DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy. (2025/08/25) ♡
• Gut Microbiota and Short-Chain Fatty Acid Profiles in Facioscapulohumeral Dystrophy: Associations with Epigenetic Alterations. (2025/08/22) ♡
• All-in-one vectors for epigenetic CRISPR inhibition of DUX4-fl in facioscapulohumeral muscular dystrophy. (2025/08/07) ♡
• Preimplantation genetic testing for facioscapulohumeral dystrophy caused by contractions of 4q35 D4Z4 repeats. (2025/08/01) ♡
• The Facioscapulohumeral Muscular Dystrophy Rasch-Built Overall Disability Scale (FSHD-RODS): Longitudinal Assessment of a Disease-Specific Patient Reported Outcome. (2025/08/01) ♡
• Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases. (2025/07/29) ♡
• 3D finite element models reveal regional fatty infiltration modulates tibialis anterior force generating capacity in FSHD. (2025/07/18) ♡
• Multi-scale machine learning model predicts muscle and functional disease progression. (2025/07/16) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. AAV-shDUX4 provides short-term benefits but limited long-term efficacy in a DUX4 mouse model of FSHD. (2025/07/12) ♡
• 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. (2025/07/10) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Estrogen rescues muscle regeneration impaired by DUX4 in a humanized xenograft mouse model. (2025/07/09) ♡
• Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis. (2025/07/08) ♡
• 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. Early-Onset Facial Weakness: Evaluation and Surgical Treatment of Facioscapulohumeral Muscular Disease. (2025/07/01) ♡
• Crossed Facial Muscle Atrophy in Facioscapulohumeral Muscular Dystrophy. (2025/07/01) ♡
• 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. (2025/07/01) ♡
• 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. The recent clinical trial of losmapimod for the treatment of facioscapulohumeral muscular dystrophy. (2025/07/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy. (2025/07/01) ♡
• 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. Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review. (2025/06/25) ♡
• Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis. (2025/06/24) ♡
• A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic. (2025/06/16) ♡
• 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) ♡

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