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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 (886)

• Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function. (2024/11/16) ♡
• Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy. (2024/11/02) ♡
• The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound. (2024/11/01) ♡
• 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. Hereditary Neuromuscular Disorders in Reproductive Medicine. (2024/10/30) ♡
• Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice. (2024/10/23) ♡
• Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients. (2024/10/22) ♡
• 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 the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders. (2024/10/11) ♡
• 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. Late-onset myopathies. (2024/10/01) ♡
• 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. A comprehensive review of scapulothoracic abnormal motion (STAM): evaluation, classification, and treatment strategies. (2024/09/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anesthetic Approach for a Pediatric Patient With Facioscapulohumeral Muscular Dystrophy. (2024/09/10) ♡
• SMCHD1 activates the expression of genes required for the expansion of human myoblasts. (2024/09/09) ♡
• Characterizing Mechanical Changes in the Biceps Brachii Muscle in Mild Facioscapulohumeral Muscular Dystrophy Using Shear Wave Elastography. (2024/09/08) ♡
• D4Z4 Hypomethylation in Human Germ Cells. (2024/09/06) ♡
• Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort. (2024/09/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy. (2024/09/04) ♡
• The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India. (2024/09/01) ♡
• Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy. (2024/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1. (2024/09/01) ♡
• 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. French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD). (2024/09/01) ♡
• Progesterone may be a regulator and B12 could be an indicator of the proximal D4Z4 repeat methylation status on 4q35ter. (2024/09/01) ♡
• 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. Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape. (2024/08/21) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series. (2024/08/13) ♡
• Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases. (2024/08/01) ♡
• Diagnoses of muscular dystrophy in a veterans health system. (2024/08/01) ♡
• Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy. (2024/08/01) ♡
• Deletion of Dux ameliorates muscular dystrophy in mdx mice by attenuating oxidative stress via Nrf2. (2024/07/31) ♡
• Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy. (2024/07/26) ♡
• 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. An open-label pilot study of losmapimod to evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments in participants with facioscapulohumeral muscular dystrophy type 1. (2024/07/15) ♡
• AI driven analysis of MRI to measure health and disease progression in FSHD. (2024/07/05) ♡
• The upper extremity functional index (UEFI): Italian validation in patients with Facioscapulohumeral muscular dystrophy. (2024/07/01) ♡
• 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. Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. (2024/07/01) ♡
• Scapulothoracic tenodesis using hamstring tendon graft for treatment of problematic scapula winging: A new surgical technique. (2024/07/01) ♡
• Muscle strength, quantity and quality and muscle fat quantity and their association with oxidative stress in patients with facioscapulohumeral muscular dystrophy: Effect of antioxidant supplementation. (2024/07/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Systemic Pharmacotherapeutic Treatment of the ACTA1-MCM/FLExDUX4 Preclinical Mouse Model of FSHD. (2024/06/26) ♡
• Single-cell spatial transcriptomics reveals a dystrophic trajectory following a developmental bifurcation of myoblast cell fates in facioscapulohumeral muscular dystrophy. (2024/06/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Sternal Reconstruction for Refractory Pectus Excavatum From Facioscapulohumeral Muscular Dystrophy. (2024/06/25) ♡
• First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way. (2024/06/01) ♡
• Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure. (2024/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. (2024/06/01) ♡
• DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis. (2024/05/31) ♡
• 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. Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome. (2024/05/25) ♡
• Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing. (2024/05/13) ♡
• Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting. (2024/05/11) ♡
• Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies. (2024/05/08) ♡
• Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy. (2024/05/04) ♡
• Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype. (2024/05/03) ♡
• 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. A Review of Muscular Dystrophies. (2024/05/03) ♡
• The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden. (2024/05/01) ♡
• Test-retest reliability of three life balance measures in people with neuromuscular disease: the activity card sort-NL, the activity calculator, and the occupational balance questionnaire. (2024/05/01) ♡
• In silico analysis of rib force distribution in postscapulothoracic arthrodesis model. (2024/05/01) ♡

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