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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- Living with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands. (2024/04/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. The DUX4-HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected. (2024/03/15) ♡
- Temporal course of cognitive and behavioural changes in motor neuron diseases. (2024/03/13) ♡
- Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families. (2024/03/01) ♡
- Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact. (2024/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD). (2024/03/01) ♡
- An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration. (2024/03/01) ♡
- Fitness and walking outcomes following aerobic and lower extremity strength training in facioscapulohumeral dystrophy: a case series. (2024/03/01) ♡
- Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report. (2024/02/28) ♡
- Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. (2024/02/01) ♡
- Meeting report: The 2023 FSHD International Research Congress. (2024/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping. (2024/02/01) ♡
- Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing. (2024/01/29) ♡
- snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis. (2024/01/20) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation. (2024/01/07) ♡
- Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy. (2024/01/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Surgical treatment for lumbar hyperlordosis associated with facioscapulohumeral muscular dystrophy: A case series. (2024/01/01) ♡
- 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. The lived experience of facioscapulohumeral muscular dystrophy: A systematic review and synthesis of the qualitative literature. (2024/01/01) ♡
- Face to Face: deciphering facial involvement in inclusion body myositis. (2024/01/01) ♡
- Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom. (2024/01/01) ♡
- IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy. (2024/01/01) ♡
- Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation. (2024/01/01) ♡
- 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. Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases. (2024/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Optimization of Xenografting Methods for Generating Human Skeletal Muscle in Mice. (2024/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression (2024-10-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Risk of Falls Index for Patients With Neuromuscular Disorders (2024-09-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Registered Cohort Study on FSHD1 (2024-08-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy (2024-07-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) (2024-07-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry (2024-05-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Rehabilitation in Muscular Dystrophies From the Hospital Facility to the Home: Pilot Project [RIMUDI] (2024-04-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions (2024-04-18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3. (2023/12/21) ♡
- 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. Long-read sequencing improves diagnostic rate in neuromuscular disorders. (2023/12/20) ♡
- Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene. (2023/12/16) ♡
- Herpesviruses mimic zygotic genome activation to promote viral replication. (2023/12/13) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Voluntary wheel running improves molecular and functional deficits in a murine model of facioscapulohumeral muscular dystrophy. (2023/12/02) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1. (2023/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1. (2023/12/01) ♡
- Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy. (2023/12/01) ♡
- The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes. (2023/12/01) ♡
- Participant experiences of guided self-help Acceptance and Commitment Therapy for improving quality of life in muscle disease: a nested qualitative study within the ACTMus randomized controlled trial. (2023/12/01) ♡
- Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy. (2023/11/30) ♡
- Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping. (2023/11/22) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A human immune/muscle xenograft model of FSHD muscle pathology. (2023/11/17) ♡
- Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism. (2023/11/16) ♡
- Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients. (2023/11/01) ♡
- Prevalence of Neuromuscular Diseases in Young South Korean Males; A Korean Military Manpower Administration and Medical Command Data-Based Study. (2023/11/01) ♡
- Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder. (2023/11/01) ♡
- Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges. (2023/10/24) ♡
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