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Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy.
- Published in:
- European Heart Journal Case Reports, 2022, v. 6, n. 3, p. 1, doi. 10.1093/ehjcr/ytac105
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- Publication type:
- Article
Anti-latent TGFβ binding protein 4 antibody improves muscle function and reduces muscle fibrosis in muscular dystrophy.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 610, p. 1, doi. 10.1126/scitranslmed.abf0376
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- Publication type:
- Article
Thrombospondin expression in myofibers stabilizes muscle membranes.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.17589
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- Publication type:
- Article
Abcc9 is required for the transition to oxidative metabolism in the newborn heart.
- Published in:
- FASEB Journal, 2014, v. 28, n. 7, p. 2804, doi. 10.1096/fj.13-244459
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- Publication type:
- Article
Myoferlin is required for insulin-like growth factor response and muscle growth.
- Published in:
- FASEB Journal, 2010, v. 24, n. 4, p. 1284, doi. 10.1096/fj.09-136309
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- Publication type:
- Article
Myosin subfragment-1 is sufficient to move actin filaments in vitro.
- Published in:
- Nature, 1987, v. 328, n. 6130, p. 536, doi. 10.1038/328536a0
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- Publication type:
- Article
Genome-wide association for heart failure: from discovery to clinical use.
- Published in:
- 2021
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- Publication type:
- Editorial
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 4, p. 481, doi. 10.1002/ana.23819
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- Publication type:
- Article
Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 10, p. 1, doi. 10.1161/JAHA.123.030467
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- Publication type:
- Article
Practitioners' Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics.
- Published in:
- 2022
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- Publication type:
- journal article
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
- Published in:
- 2022
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- Publication type:
- journal article
SGLT2 Inhibition on Cardiac Mitochondrial Function: Searching for a Sweet Spot.
- Published in:
- 2021
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- Publication type:
- editorial
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
- Published in:
- 2021
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- Publication type:
- journal article
Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.
- Published in:
- 2020
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- Publication type:
- journal article
Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42203-z
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- Publication type:
- Article
High seroprevalence for SARS-CoV-2 among household members of essential workers detected using a dried blood spot assay.
- Published in:
- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0237833
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- Publication type:
- Article
Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006019
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- Publication type:
- Article
Genetics: Broken giant linked to heart failure.
- Published in:
- 2012
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- Publication type:
- Opinion
Supercomputing for the parallelization of whole genome analysis.
- Published in:
- Bioinformatics, 2014, v. 30, n. 11, p. 1508, doi. 10.1093/bioinformatics/btu071
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- Publication type:
- Article
Secretory leukocyte protease inhibitor and risk of heart failure in the Multi-Ethnic Study of Atherosclerosis.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27679-0
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- Publication type:
- Article
COVID-19 symptom severity predicts neutralizing antibody activity in a community-based serological study.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-15791-6
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- Publication type:
- Article
Genetic testing in early-onset atrial fibrillation.
- Published in:
- European Heart Journal, 2024, v. 45, n. 34, p. 3111, doi. 10.1093/eurheartj/ehae298
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- Publication type:
- Article
Sarcoglycans in muscular dystrophy.
- Published in:
- Microscopy Research & Technique, 2000, v. 48, n. 3/4, p. 167, doi. 10.1002/(SICI)1097-0029(20000201/15)48:3/4<167::AID-JEMT5>3.0.CO;2-T
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- Publication type:
- Article
COVID-19 mRNA vaccination generates greater IgG levels in women compared to men.
- Published in:
- 2021
- By:
- Publication type:
- journal article
An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 275, doi. 10.3233/JND-210741
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- Publication type:
- Article
Low Levels of Neutralizing Antibodies After Natural Infection With Severe Acute Respiratory Syndrome Coronavirus 2 in a Community-Based Serological Study.
- Published in:
- Open Forum Infectious Diseases, 2022, v. 9, n. 3, p. 1, doi. 10.1093/ofid/ofac055
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- Publication type:
- Article
Assessment of Virological Contributions to COVID-19 Outcomes in a Longitudinal Cohort of Hospitalized Adults.
- Published in:
- Open Forum Infectious Diseases, 2022, v. 9, n. 3, p. 1, doi. 10.1093/ofid/ofac027
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- Publication type:
- Article
Cohabitation With a Known Coronavirus Disease 2019 Case Is Associated With Greater Antibody Concentration and Symptom Severity in a Community-Based Sample of Seropositive Adults.
- Published in:
- Open Forum Infectious Diseases, 2021, v. 8, n. 7, p. 1, doi. 10.1093/ofid/ofab244
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- Publication type:
- Article
Modifiers of heart and muscle function: where genetics meets physiology.
- Published in:
- Experimental Physiology, 2014, v. 99, n. 4, p. 621, doi. 10.1113/expphysiol.2013.075887
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- Publication type:
- Article
Processing and Assembly of the Dystrophin Glycoprotein Complex.
- Published in:
- Traffic, 2007, v. 8, n. 3, p. 177, doi. 10.1111/j.1600-0854.2006.00519.x
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- Publication type:
- Article
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2258, doi. 10.1093/hmg/ddx116
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- Publication type:
- Article
Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. 5711, doi. 10.1093/hmg/ddv288
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- Publication type:
- Article
Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 15, p. 4284, doi. 10.1093/hmg/ddv160
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- Publication type:
- Article
Excess SMAD signaling contributes to heart and muscle dysfunction in muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6722, doi. 10.1093/hmg/ddu390
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- Publication type:
- Article
Myofiber-specific inhibition of TGFβ signaling protects skeletal muscle from injury and dystrophic disease in mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6903, doi. 10.1093/hmg/ddu413
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- Publication type:
- Article
P38α MAPK underlies muscular dystrophy and myofiber death through a Bax-dependent mechanism.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5452, doi. 10.1093/hmg/ddu270
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- Publication type:
- Article
Myofiber-specific inhibition of TGFβ signaling protects skeletal muscle from injury and dystrophic disease in mice.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu413
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- Publication type:
- Article
Excess SMAD signaling contributes to heart and muscle dysfunction in muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu390
- By:
- Publication type:
- Article
SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 894, doi. 10.1093/hmg/ddq528
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- Publication type:
- Article
Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 779, doi. 10.1093/hmg/ddq522
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- Publication type:
- Article
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. 607, doi. 10.1093/hmg/ddn386
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- Publication type:
- Article
Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2933, doi. 10.1093/hmg/ddm254
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- Publication type:
- Article
Nuclear sequestration of δ-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 4, p. 355, doi. 10.1093/hmg/ddl453
- By:
- Publication type:
- Article
The CO-Regulation Database (CORD): A Tool to Identify Coordinately Expressed Genes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090408
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- Publication type:
- Article
Conference report on contractures in musculoskeletal and neurological conditions.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Modifying muscular dystrophy through transforming growth factor-β.
- Published in:
- FEBS Journal, 2013, v. 280, n. 17, p. 4198, doi. 10.1111/febs.12266
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- Publication type:
- Article
Durability of antibody response to vaccination and surrogate neutralization of emerging variants based on SARS-CoV-2 exposure history.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96879-3
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- Publication type:
- Article
Loss of dysferlin or myoferlin results in differential defects in excitation–contraction coupling in mouse skeletal muscle.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95378-9
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- Publication type:
- Article