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Facioscapulohumeral dystrophy (FSHD)
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Publications and studies (978)
- 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) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A 5-year clinical follow-up study from the Italian National Registry for FSHD. (2021/01/01) ♡
- Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy. (2021/01/01) ♡
- Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1). (2021/01/01) ♡
- The prevalence of hereditary neuromuscular disorders in Northern Norway. (2021/01/01) ♡
- Texture analysis and machine learning to predict water T2 and fat fraction from non-quantitative MRI of thigh muscles in Facioscapulohumeral muscular dystrophy. (2021/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea. (2021/01/01) ♡
- Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. (2021/01/01) ♡
- 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. Current Therapeutic Approaches in FSHD. (2021/01/01) ♡
- Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies. (2021/01/01) ♡
- 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. Promising Perspective to Facioscapulohumeral Muscular Dystrophy Treatment: Nutraceuticals and Phytochemicals. (2021/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Participants With Muscular Dystrophy (2021-08-11) ♡
- Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy. (2020/12/30) ♡
- Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis. (2020/12/10) ♡
- Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. (2020/12/10) ♡
- Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenic DUX4-fl expression in FSHD. (2020/12/10) ♡
- Meeting report: the 2020 FSHD International Research Congress. (2020/12/08) ♡
- Skeletal muscle cell transplantation: models and methods. (2020/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging. (2020/12/01) ♡
- Updated size index valid for both neurogenic and myogenic changes. (2020/12/01) ♡
- 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. Epigenetics of neuromuscular disorders. (2020/12/01) ♡
- What is in the Myopathy Literature? (2020/12/01) ♡
- 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. Late-onset myopathies: clinical features and diagnosis. (2020/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Novel Coincidence: Essential Thrombocythemia with Facioscapulohumeral Muscular Dystrophy. (2020/11/19) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Effect of Muscular Exercise on Patients With Muscular Dystrophy: A Systematic Review and Meta-Analysis of the Literature. (2020/11/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Teaching Video NeuroImages: Inverted Beevor sign in facioscapulohumeral muscular dystrophy. (2020/11/10) ♡
- Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy. (2020/11/01) ♡
- Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy. (2020/11/01) ♡
- 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. Cellular and animal models for facioscapulohumeral muscular dystrophy. (2020/10/28) ♡
- A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy. (2020/10/22) ♡
- 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. Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review. (2020/10/21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients. (2020/10/16) ♡
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