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International Journal of Cardiology, ISSN 0167-5273, 07/2019, Volume 286, pp. 113 - 114
Journal Article
European journal of medical genetics, ISSN 1769-7212, 04/2019
Danon disease is characterized by hypertrophic cardiomyopathy, skeletal myopathy, and intellectual disability due to deficiency of the lysosome-associated... 
Journal Article
Российский кардиологический журнал, ISSN 1560-4071, 11/2017, Issue 10, pp. 93 - 99
Danon disease (DD) is a rare and complex pathology, difficult for diagnostics, with multisystemic presentation, which demands for multidisciplinary clinical... 
LAMP2 | hypertrophic cardiomyopathy | Danon disease
Journal Article
Revista Espanola de Cardiologia, ISSN 0300-8932, 06/2019, Volume 72, Issue 6, pp. 479 - 486
Introduction and objectives: Danon disease (DD)is caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by hypertrophic... 
Intellectual disability | Pre-excitation | Hypertrophic cardiomyopathy | Danon disease | Myopathy
Journal Article
Russian Journal of Cardiology, ISSN 1560-4071, 2017, Volume 150, Issue 10, pp. 93 - 99
Journal Article
International Journal of Cardiology, ISSN 0167-5273, 10/2017, Volume 245, pp. 201 - 206
Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized... 
Hypertrophic cardiomyopathy | Echocardiography | Danon disease | CARDIAC & CARDIOVASCULAR SYSTEMS | FEATURES | Cardiomyopathy | Heart diseases | Heart | Medical colleges | Transplantation | Index Medicus
Journal Article
International Journal of Cardiology, ISSN 0167-5273, 07/2019, Volume 286, pp. 92 - 98
Background: Danon disease (DD) is a rare X-linked autophagic vacuolar myopathy, characterized by high penetrance and severe cardiomyopathy. Because of its... 
Hypertrophic cardiomyopathy | Danon disease | Gender | Genetic testing | Dilated cardiomyopathy | LAMP2 mutation | DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | TASK-FORCE | AUTOPHAGIC VACUOLES | PHENOTYPIC-EXPRESSION
Journal Article
AMERICAN JOURNAL OF PATHOLOGY, ISSN 0002-9440, 06/2015, Volume 185, Issue 6, pp. 1713 - 1723
Lysosome-associated membrane protein-2 (LAMP-2) is the gene responsible for Danon disease, which is characterized by cardiomyopathy, autophagic vacuolar... 
CELLS | OXIDATIVE STRESS | DANON-DISEASE | CHAPERONE-MEDIATED AUTOPHAGY | MEMBRANE-PROTEIN LAMP-2 | CARDIOMYOPATHY | DEGRADATION | NEURODEGENERATION | ALPHA-SYNUCLEIN | PATHOLOGY | PARKINSONS-DISEASE
Journal Article
Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 01/2018, Volume 114, pp. 234 - 242
Induced pluripotent stem cells (iPSCs) have been generated from patients with various forms of disease, including Danon disease (DD); however, few reports... 
Identical twins | Danon disease | X-chromosome inactivation | LAMP2 | iPS cells | CARDIAC & CARDIOVASCULAR SYSTEMS | PATTERNS | AUTOPHAGY | CARDIOMYOCYTES | EROSION | FAILURE | CELL BIOLOGY | LEUKOCYTES | RECEPTOR GENE | DIFFERENTIATION | Monoclonal antibodies | T cells | Twins | Analysis | Genes | Stem cells | Index Medicus
Journal Article
Spanish Journal of Cardiology (Revista Española de Cardiología, English Edition), ISSN 1885-5857, 2018, Volume 72, Issue 6, pp. 479 - 486
AbstractIntroduction and objectivesDanon disease (DD) is caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by... 
Cardiovascular | Internal Medicine | Intellectual disability | Enfermedad de Danon | Pre-excitation | Miocardiopatía hipertrófica | Hypertrophic cardiomyopathy | Preexcitación | Alteraciones del aprendizaje | Danon disease | Miopatía | Myopathy | CARDIAC & CARDIOVASCULAR SYSTEMS
Journal Article
JAMA, ISSN 0098-7484, 03/2009, Volume 301, Issue 12, pp. 1253 - 1259
Journal Article
Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 08/2019, Volume 133, pp. 199 - 208
Adult zebrafish is an emerging vertebrate model for studying genetic basis of cardiomyopathies; but whether the simple fish heart can model essential features... 
Single myofibril | Disease modeling | Cardiomyopathy | mTOR | Zebrafish | Danon disease | Hypertrophic remodeling | Cardiac contractility | TARGET | CARDIAC & CARDIOVASCULAR SYSTEMS | MYOSIN | CELL BIOLOGY | HYPERTROPHIC CARDIOMYOPATHY | FORCE | KINETICS | GENERATION | DYSFUNCTION | EXPRESSION | INSIGHTS | Heart | Exercise | Analysis | Animal genetic engineering | Models | Heart diseases | Cardiovascular agents
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3237 - 3254
Journal Article