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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Personalized Training for People With Rare Neuromuscular Disorders (2026-06-18) ♡
- 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 Study to Evaluate RO7204239 in Participants With Facioscapulohumeral Muscular Dystrophy (2026-06-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD) (2026-05-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle Oxygenation in Effort in Neuromuscular Diseases (2026-04-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Amino Acids and Exercise in FSHD (2026-04-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD (2026-04-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pro-inflammatory Cytokines in Facioscapulohumeral Muscular Dystrophy (CYTOKINE-FSH) (2026-03-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease (2026-03-17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Walking ANalysis Interest in Persons wiTh facioscapulohumEral Muscular Dystrophies (2026-03-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Quantitative Assessment of Orofacial Muscle Function in FSHD (2026-02-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds) (2026-02-25) ♡
- 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. Clenbuterol to Target DUX4 in FSHD (2026-02-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. BetterLife FSHD: A Patient-driven Health and Research Platform (2026-02-20) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. New Clinical Outcome Measures to Remotely Evaluate Patients With FacioScapuloHumeral Muscular Dystrophy (2026-02-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ultrasound Detection of Early Facial Muscle Changes in FSHD: Thickness and Echo Intensity Findings (2026-01-09) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Genome-wide analysis of FSHD cell lines using Nanopore sequencing reveals allele-specific differences at DUX4 target genes and complex repeats. (2025/12/25) ♡
- Adaptive response to electrical pulse stimulation is impaired in FSHD myotubes by DUX4 gene network activation. (2025/12/17) ♡
- DUX4 reduction and muscle function improvement by subcutaneous delivery of gapmer antisense oligonucleotides. (2025/12/08) ♡
- Interplay between balance, gait kinematic and physical activity level in facioscapulohumeral muscular dystrophy. (2025/12/02) ♡
- Unraveling the link between resting metabolic rate and phase angle in facioscapulohumeral dystrophy: a comparative and associative analysis. (2025/12/01) ♡
- 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. DUX4-rearranged B-ALL: deciphering a biological and clinical conundrum. (2025/12/01) ♡
- Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. (2025/12/01) ♡
- Targeted sequencing and iterative assembly of near-complete genomes. (2025/11/24) ♡
- 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. Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature. (2025/11/01) ♡
- Reliability and Validity of the Reachable Workspace Total Score With Wrist Weight in Facioscapulohumeral Muscular Dystrophy. (2025/11/01) ♡
- Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy. (2025/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report. (2025/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Response to: Disentangling Facioscapulohumeral Muscular Dystrophy Disability From Age and Comorbidities: A Call for Refined Stratification. (2025/11/01) ♡
- Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study. (2025/10/20) ♡
- Leveraging AI for facioscapulohumeral muscular dystrophy prediction and omics biomarker identification. (2025/10/03) ♡
- 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. Recent progress in the molecular understanding and treatments of facioscapulohumeral muscular dystrophy. (2025/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Coats-like Retinopathy Associated With 18p Deletion Syndrome. (2025/10/01) ♡
- 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. Epigenetic regulation of DUX4: From embryogenesis to muscular degeneration. (2025/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy. (2025/10/01) ♡
- 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. (2025/10/01) ♡
- Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features. (2025/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Balancing Risks in Obstetrics: Anesthesia Management in Facioscapulohumeral Muscular Dystrophy with Scoliosis. (2025/10/01) ♡
- 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. Marion or the metamorphosis: a journey of self-reconstruction and hope in the face of FSHD. (2025/10/01) ♡
- 279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024. (2025/10/01) ♡
- Effectiveness of the capability approach in rehabilitation for persons with neuromuscular diseases: A controlled before-after study. (2025/09/23) ♡
- Matrix metalloproteinases are hallmark early biomarkers and therapeutic targets in FSHD. (2025/09/18) ♡
- 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. Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy. (2025/09/16) ♡
- A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing. (2025/09/03) ♡
- Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry. (2025/09/02) ♡
- Deciphering Muscular Dynamics: A Dual-Attention Framework for Predicting Muscle Contraction From Activation Patterns. (2025/09/01) ♡
- Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form. (2025/09/01) ♡
- Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. (2025/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Facioscapulohumeral muscular dystrophy manifestations in the hand: A case report. (2025/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy. (2025/09/01) ♡
- Video-Based Biomechanical Analysis Captures Disease-Specific Movement Signatures of Different Neuromuscular Diseases. (2025/09/01) ♡
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