Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy - Wikidata - wikimedia - TriplyDB

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

http://www.wikidata.org/entity/Q33930898

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Autophagy, mitochondria and oxidative stress: cross-talk and redox signalling Infiltrative Cardiomyopathies Genetics of Human and Canine Dilated Cardiomyopathy Recent advances in hypertrophic cardiomyopathy Clinical utility of cardiovascular magnetic resonance in hypertrophic cardiomyopathy Danon disease: clinical features, evaluation, and management Regulation of cardiac autophagy by insulin-like growth factor 1 Autophagy: an adaptive physiological countermeasure to cellular senescence and ischaemia/reperfusion-associated cardiac arrhythmias Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.Proteasomal and lysosomal protein degradation and heart disease.LAMP2 shines a light on cardiomyopathy in an athlete.Sex-dependent gene regulatory networks of the heart rhythm.Autophagy in hypertensive heart disease Asymptomatic young man with Danon disease Danon disease for the cardiologist: case report and review of the literature PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.Cardiomyocyte autophagy: remodeling, repairing, and reconstructing the heart.Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy.Functional performance and muscle strength phenotypes in men and women with Danon disease Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.Autophagy as a therapeutic target in cardiovascular disease.Autophagy in cardiac plasticity and disease Cone-rod dystrophy can be a manifestation of Danon disease Impaired autophagosome clearance contributes to cardiomyocyte death in ischemia/reperfusion injury.Late adult-onset of X-linked myopathy with excessive autophagy Brief Report: Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure Mimics of Hypertrophic Cardiomyopathy - Diagnostic Clues to Aid Early Identification of Phenocopies.Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all Oxidative stress and autophagy in cardiovascular homeostasis.A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management.The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy.Potential role of autophagy in modulation of lipid metabolism.N-Acetylcysteine Attenuates Diabetic Myocardial Ischemia Reperfusion Injury through Inhibiting Excessive Autophagy.Nuclear cardiac imaging in hypertrophic cardiomyopathy.Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

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Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

http://www.wikidata.org/entity/Q33930898

description

2009 nî lūn-bûn

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2009 թուականի Մարտին հրատարակուած գիտական յօդուած

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2009 թվականի մարտին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

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Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

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type

label

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

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Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

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prefLabel

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

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Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

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Journal of the American Medical Association

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Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

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Adrian K Almquist

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Barry J Maron

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Christine E Seidman

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Gregory B Wright

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J Philip Saul

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Jeanne M Baffa

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Jonathan Seidman

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Michael Arad

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Paolo Spirito

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Tammy S Haas

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P2860

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy.

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

Clinicopathological features of genetically confirmed Danon disease.

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.

Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy.

Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy.

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1253-1259

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10.1001/JAMA.2009.371

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12

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301

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24231628

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19318653

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4106257

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