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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications (886)
- A patient-focused survey to assess the effects of the COVID-19 pandemic and social guidelines on people with muscular dystrophy. (2021/09/01) ♡
- Guidelines for genetic testing of muscle and neuromuscular junction disorders. (2021/09/01) ♡
- Exploring the influence of smoking and alcohol consumption on clinical severity in patients with facioscapulohumeral muscular dystrophy. (2021/09/01) ♡
- Resting metabolic rate in adults with facioscapulohumeral muscular dystrophy. (2021/09/01) ♡
- A multi-objective genetic algorithm to find active modules in multiplex biological networks. (2021/08/30) ♡
- Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects. (2021/08/13) ♡
- 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. Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7. (2021/08/09) ♡
- Ultrasound pattern of anterolateral leg muscles in facioscapulohumeral muscular dystrophy. (2021/08/01) ♡
- Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy. (2021/08/01) ♡
- p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models. (2021/08/01) ♡
- Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models. (2021/08/01) ♡
- Multicolor Whole-Genome Mapping in Nanochannels for Genetic Analysis. (2021/07/20) ♡
- SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization. (2021/07/16) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model. (2021/07/09) ♡
- The facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS). (2021/07/01) ♡
- Analysis of genes regulated by DUX4 via oxidative stress reveals potential therapeutic targets for treatment of facioscapulohumeral dystrophy. (2021/07/01) ♡
- 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. p38 MAPKs - roles in skeletal muscle physiology, disease mechanisms, and as potential therapeutic targets. (2021/06/22) ♡
- Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases. (2021/06/17) ♡
- CRISPR mediated targeting of DUX4 distal regulatory element represses DUX4 target genes dysregulated in Facioscapulohumeral muscular dystrophy. (2021/06/15) ♡
- Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4. (2021/06/01) ♡
- Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy. (2021/06/01) ♡
- 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. Control of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Cancer. (2021/06/01) ♡
- Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy. (2021/06/01) ♡
- Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD). (2021/05/24) ♡
- Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells. (2021/05/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Herbal medicine significantly improved muscle function in a patient with type 1 facioscapulohumeral muscular dystrophy: A case report. (2021/05/01) ♡
- Characterization of individuals with selected muscular dystrophies from the expanded pilot of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) in the United States. (2021/04/15) ♡
- [Correction: Facioscapulohumeral muscular dystrophy]. (2021/04/12) ♡
- Characterizing the face in facioscapulohumeral muscular dystrophy. (2021/04/01) ♡
- Relationship of DUX4 and target gene expression in FSHD myocytes. (2021/04/01) ♡
- Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy. (2021/04/01) ♡
- Surgical Decision-Making in Spinal Instability in Facioscapulohumeral Muscular Dystrophy Related with a Spinal Muscle Atrophy. (2021/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2. (2021/03/23) ♡
- 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: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update. (2021/03/12) ♡
- 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. Genetic Approaches for the Treatment of Facioscapulohumeral Muscular Dystrophy. (2021/03/12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy. (2021/03/10) ♡
- [Facioscapulohumeral muscular dystrophy]. (2021/03/07) ♡
- Quantitative (1)H and (23)Na muscle MRI in Facioscapulohumeral muscular dystrophy patients. (2021/03/01) ♡
- Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy. (2021/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dual molecular diagnoses in a neurometabolic specialty clinic. (2021/03/01) ♡
- Scapulothoracic fusion using nonabsorbable suture fixation: surgical technique and review of the literature. (2021/02/27) ♡
- Fast Open-Source Toolkit for Water T2 Mapping in the Presence of Fat From Multi-Echo Spin-Echo Acquisitions for Muscle MRI. (2021/02/26) ♡
- CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis. (2021/02/16) ♡
- DUX4 Transcript Knockdown with Antisense 2'-O-Methoxyethyl Gapmers for the Treatment of Facioscapulohumeral Muscular Dystrophy. (2021/02/03) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Great Athlete with Muscular Weakness. (2021/02/01) ♡
- 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. Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy. (2021/02/01) ♡
- Motion sensor-acquired reachable workspace correlates with patient-reported upper extremity activities of daily living (ADL) function in facioscapulohumeral dystrophy. (2021/02/01) ♡
- [Clinicopathological Features of Myositis and Necrotizing Myopathy: How to Distinguish between Myositis and Muscular Dystrophy on Muscle Pathology]. (2021/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pain Management of Scapulothoracic Fusion Using Continuous Interscalene Brachial Plexus and Erector Spinae Plane Catheters: A Case Report. (2021/01/19) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report. (2021/01/09) ♡
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