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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- The socioeconomic burden of facioscapulohumeral muscular dystrophy. (2021/12/01) ♡
- RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy. (2021/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series. (2021/12/01) ♡
- 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 Role in Normal Physiology and in FSHD Muscular Dystrophy. (2021/11/26) ♡
- 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 pediatric case report and literature review of facioscapulohumeral muscular dystrophy type 1. (2021/11/24) ♡
- Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up. (2021/11/23) ♡
- Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study. (2021/11/22) ♡
- Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study. (2021/11/08) ♡
- The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease. (2021/11/04) ♡
- Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A "triple trouble" case report and review of the literature on the association of MS and muscle disorders. (2021/11/01) ♡
- CRISPR/Cas correction of muscular dystrophies. (2021/11/01) ♡
- 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. Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings. (2021/11/01) ♡
- Evaluating the diagnostic and prognostic value of biomarkers for heart disease and major adverse cardiac events in patients with muscular dystrophy. (2021/10/28) ♡
- Scapular winging secondary to serratus anterior dysfunction: analysis of clinical presentations and etiology in a consecutive series of 96 patients. (2021/10/01) ♡
- A Roadmap to Patient Engagement: Facioscapulohumeral Muscular Dystrophy and the ReSolve Clinical Trial. (2021/10/01) ♡
- Cognitive profile of patients with facioscapulohumeral muscular dystrophy. (2021/10/01) ♡
- Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy. (2021/09/27) ♡
- Upper Limb Rehabilitation in Facioscapulohumeral Muscular Dystrophy: A Patients' Perspective. (2021/09/16) ♡
- 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) ♡
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