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Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- 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 case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure. (2020/10/15) ♡
- [Pain management in rare diseases]. (2020/10/01) ♡
- 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 prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy. (2020/10/01) ♡
- Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice. (2020/10/01) ♡
- Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity. (2020/09/29) ♡
- 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 Strategies Targeting DUX4 in FSHD. (2020/09/07) ♡
- A non-viral genome editing platform for site-specific insertion of large transgenes. (2020/09/03) ♡
- Differential diagnosis of vacuolar myopathies in the NGS era. (2020/09/01) ♡
- p38α Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy. (2020/09/01) ♡
- Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy. (2020/09/01) ♡
- Correction for Lim et al., Inhibition of DUX4 expression with antisense LNA gapmers as a therapy for facioscapulohumeral muscular dystrophy. (2020/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Letter to the Editor Regarding "Non-Union After Multiple Lumbar Fusion Surgeries in a Patient with Facioscapulohumeral Muscular Dystrophy: A Case Report". (2020/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. In Reply to the Letter to the Editor Regarding 'Non-Union After Multiple Lumbar Fusion Surgeries in a Patient With Facioscapulohumeral Muscular Dystrophy: A Case Report and Review of the Literature'. (2020/09/01) ♡
- 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. Relating SMCHD1 structure to its function in epigenetic silencing. (2020/08/28) ♡
- Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy. (2020/08/12) ♡
- DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation. (2020/08/11) ♡
- Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy. (2020/08/04) ♡
- PAX7 target gene repression associates with FSHD progression and pathology over 1 year. (2020/08/03) ♡
- Estimating the age at onset distribution of the asymptomatic stage of a genetic disease based on pedigree data. (2020/08/01) ♡
- 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. Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy. (2020/08/01) ♡
- Generation of a transgene-free iPSC line and genetically modified line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2) patient with SMCHD1 p.Lys607Ter mutation. (2020/08/01) ♡
- 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. DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation. (2020/07/28) ♡
- Inhibition of DUX4 expression with antisense LNA gapmers as a therapy for facioscapulohumeral muscular dystrophy. (2020/07/14) ♡
- Induction of a local muscular dystrophy using electroporation in vivo: an easy tool for screening therapeutics. (2020/07/09) ♡
- 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. Non-Union After Multiple Lumbar Fusion Surgeries in a Patient With Facioscapulohumeral Muscular Dystrophy: A Case Report and Review of the Literature. (2020/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy. (2020/07/01) ♡
- Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study. (2020/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bilateral Scapulothoracic Fusions Fixed with High-Strength Suture Tapes for Facioscapulohumeral Dystrophy: A Case Report. (2020/07/01) ♡
- Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells. (2020/06/23) ♡
- Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid-binding residues. (2020/06/16) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Use of muscle MRI in an atypical presentation of FSHD2. (2020/06/11) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Evolving genetic heterogeneity of facioscapulohumeral muscular dystrophy. (2020/06/09) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. (2020/06/09) ♡
- Anti-Müllerian hormone as an ovarian reserve marker in women with the most frequent muscular dystrophies. (2020/06/05) ♡
- 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 team approach in the diagnosis and management of facioscapulohumeral muscular dystrophy: a case report. (2020/06/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy : Reference article: Sleep-related breathing disorders in facioscapulohumeral dystrophy (https://doi.org/10.1007/s11325-019-01843-1). (2020/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Response to: Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy. Letter to the editor-reference article: sleep-related breathing disorders in facioscapulohumeral dystrophy (https://doi.org/10.1007/s11325-019-01843-1) by Santos DB et al. (2020/06/01) ♡
- 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. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy. (2020/06/01) ♡
- A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy. (2020/06/01) ♡
- 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. Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring. (2020/05/22) ♡
- G-quadruplex ligands mediate downregulation of DUX4 expression. (2020/05/07) ♡
- Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei. (2020/05/04) ♡
- [Clinical phenotype and genotype of early-onset facioscapulohumeral muscular dystrophy type 1]. (2020/05/02) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Electrical impedance myography: MRI-like data without the need for MRI. (2020/05/01) ♡
- Transcriptional and cytopathological hallmarks of FSHD in chronic DUX4-expressing mice. (2020/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. It's not all about muscle: fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy. (2020/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Facioscapulohumeral Muscular Dystrophy-a Tale of Heterogeneity and the Power of Clinical Assessments. (2020/05/01) ♡
- Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy. (2020/05/01) ♡
- A quantitative method to assess muscle edema using short TI inversion recovery MRI. (2020/04/29) ♡
- Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies. (2020/04/15) ♡
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