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Muscles and connective tissue
Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study. (2023/10/17) ♡
- Screening Station, a novel laboratory automation system for physiologically relevant cell-based assays. (2023/10/01) ♡
- Anesthetic management with remimazolam for laryngectomy in a severely underweight patient with facioscapulohumeral muscular dystrophy. (2023/10/01) ♡
- 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. The FSHD jigsaw: are we placing the tiles in the right position? (2023/10/01) ♡
- Three-dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy. (2023/10/01) ♡
- Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level. (2023/10/01) ♡
- The Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure. (2023/10/01) ♡
- Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure. (2023/10/01) ♡
- Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells. (2023/09/30) ♡
- DUX4 expression in cancer induces a metastable early embryonic totipotent program. (2023/09/26) ♡
- MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy. (2023/09/26) ♡
- The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs. (2023/09/25) ♡
- SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease. (2023/09/25) ♡
- Facioscapulohumeral muscular dystrophy's game of homeodomains: therapy wants a biomarker as a sword wants a whetstone. (2023/09/02) ♡
- Antagonism among DUX family members evolved from an ancestral toxic single homeodomain protein. (2023/09/02) ♡
- Scapulothoracic Fusion Using Multiple Suture Tape Cerclage. (2023/09/01) ♡
- Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy. (2023/09/01) ♡
- Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. (2023/09/01) ♡
- [Non-ischemic priapism (post-traumatic arteriovenous fistula of the right cavernous body) in the background of Landusy-Dejerine myopathy]. (2023/09/01) ♡
- Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD. (2023/08/22) ♡
- A Systemically Administered Unconjugated Antisense Oligonucleotide Targeting DUX4 Improves Muscular Injury and Motor Function in FSHD Model Mice. (2023/08/22) ♡
- The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy. (2023/08/16) ♡
- In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. (2023/08/11) ♡
- Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study. (2023/08/01) ♡
- Outcomes of scapulothoracic fusion in patients with facioscapulohumeral dystrophy: a comparison of allograft versus autograft bone grafting. (2023/08/01) ♡
- Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models. (2023/08/01) ♡
- Five-year follow-up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome. (2023/08/01) ♡
- Facioscapulohumeral Muscular Dystrophy is Associated With Altered Myoblast Proteome Dynamics. (2023/08/01) ♡
- The effects of facioscapulohumeral dystrophy and dynamic arm support on upper extremity muscle coordination in functional tasks. (2023/08/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy. (2023/07/18) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Finding the Determinants of Disease Severity in Facioscapulohumeral Muscular Dystrophy. (2023/07/18) ♡
- History of international connections of myology in Europe. (2023/07/10) ♡
- Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy. (2023/07/01) ♡
- 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. The bi-directional relationship between sleep and inflammation in muscular dystrophies: A narrative review. (2023/07/01) ♡
- Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy. (2023/07/01) ♡
- The endosomal escape vehicle platform enhances delivery of oligonucleotides in preclinical models of neuromuscular disorders. (2023/06/29) ♡
- SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. (2023/06/28) ♡
- Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression. (2023/06/27) ♡
- Facioscapulohumeral Muscular Dystrophy. (2023/06/26) ♡
- Molecular and Phenotypic Changes in FLExDUX4 Mice. (2023/06/25) ♡
- Report and Abstracts of the 19th Meeting of the Interuniversity Institute of Myology: Assisi, October 20-23, 2022. (2023/06/16) ♡
- WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy. (2023/06/09) ♡
- 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. Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review. (2023/06/03) ♡
- 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. [Molecular therapies: present and future in neuromuscular diseases]. (2023/06/01) ♡
- 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. Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments. (2023/05/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atypical progression of motor symptoms in facio-scapulo-humeral dystrophy: clinical worsening or overlap? (2023/05/29) ♡
- Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD. (2023/05/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases. (2023/05/17) ♡
- An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy. (2023/05/15) ♡
- Progress in muscle research through the international congress of neuromuscular diseases (ICNMD): a narrative review. (2023/05/05) ♡
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