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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications (886)
- Trajectory of left ventricular ejection fraction in response to therapies in patients with muscular dystrophy. (2022/10/01) ♡
- Objective and subjective measures of sleep in men with Muscular Dystrophy. (2022/09/22) ♡
- Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients. (2022/09/16) ♡
- Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy. (2022/09/07) ♡
- Generation of iMyoblasts from Human Induced Pluripotent Stem Cells. (2022/09/05) ♡
- Transplantation of PSC-derived myogenic progenitors counteracts disease phenotypes in FSHD mice. (2022/09/02) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Improving Molecular and Histopathology in Diaphragm Muscle of the Double Transgenic ACTA1-MCM/FLExDUX4 Mouse Model of FSHD with Systemic Antisense Therapy. (2022/09/01) ♡
- ScapuloThoracic Arthrodesis for Facio-Scapulo-Humeral Dystrophy: Outcomes at mean 7.3 years [3.5-13] follow-up. CT measurement of the fixation position of the arthrodesis and radioclinical correlations. (2022/09/01) ♡
- Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-sectional Analysis. (2022/08/30) ♡
- 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. Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD. (2022/08/29) ♡
- Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability. (2022/08/01) ♡
- Interaction between mesenchymal stem cells and myoblasts in the context of facioscapulohumeral muscular dystrophy contributes to the disease phenotype. (2022/08/01) ♡
- 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. Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy. (2022/07/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multimodal Imaging Findings in Retinopathy Associated with Facioscapulohumeral Muscular Dystrophy before and after Treatment with Intravitreal Aflibercept and Laser Photocoagulation. (2022/07/14) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit DUX4 Expression. (2022/07/07) ♡
- Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy. (2022/07/01) ♡
- A deep learning tool without muscle-by-muscle grading to differentiate myositis from facio-scapulo-humeral dystrophy using MRI. (2022/07/01) ♡
- 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. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. (2022/07/01) ♡
- Evaluation of Myocardial Strain by 2-Dimensional Speckle Tracking Echocardiography in Patients with Facioscapulohumeral Muscular Dystrophy. (2022/07/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply: Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population. (2022/06/30) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population. (2022/06/30) ♡
- Epigenetic modifier SMCHD1 maintains a normal pool of long-term hematopoietic stem cells. (2022/06/30) ♡
- A pilot study of a single intermittent arm cycling exercise programme on people affected by Facioscapulohumeral dystrophy (FSHD). (2022/06/24) ♡
- HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring. (2022/06/23) ♡
- Elevated plasma complement components in facioscapulohumeral dystrophy. (2022/06/04) ♡
- The "wrench-head" appearance of thigh muscle CT in infantile facioscapulohumeral muscular dystrophy. (2022/06/01) ♡
- Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy. (2022/06/01) ♡
- 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. FSHD Therapeutic Strategies: What Will It Take to Get to Clinic? (2022/05/25) ♡
- Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD. (2022/05/19) ♡
- Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia. (2022/05/16) ♡
- Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study. (2022/05/10) ♡
- Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy. (2022/05/04) ♡
- 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. The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy. (2022/05/01) ♡
- Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target. (2022/05/01) ♡
- 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. Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update. (2022/05/01) ♡
- Corrigendum: Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy. (2022/04/28) ♡
- Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis. (2022/04/25) ♡
- Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach. (2022/04/20) ♡
- Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning. (2022/04/01) ♡
- Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing data. (2022/04/01) ♡
- 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. Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort. (2022/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1. (2022/04/01) ♡
- Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy. (2022/04/01) ♡
- Serum miRNAs as biomarkers for the rare types of muscular dystrophy. (2022/04/01) ♡
- Baroreflex sensitivity in facioscapulohumeral muscular dystrophy. (2022/04/01) ♡
- Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. (2022/03/29) ♡
- Spatio-temporal gait differences in facioscapulohumeral muscular dystrophy during single and dual task overground walking - A pilot study. (2022/03/19) ♡
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies. (2022/03/18) ♡
- High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect. (2022/03/03) ♡
- Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy. (2022/03/02) ♡
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