标题
Review: Danon disease: Review of natural history and recent advances
作者
关键词
-
出版物
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2019-11-08
DOI
10.1111/nan.12587
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A family with Danon disease caused by a splice site mutation in LAMP 2 that generates a truncated protein
- (2019) Nianwei Zhou et al. Molecular Genetics & Genomic Medicine
- Danon disease: Gender differences in presentation and outcomes
- (2019) Michela Brambatti et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium
- (2019) Masaya Fukushima et al. EUROPEAN JOURNAL OF OPHTHALMOLOGY
- Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation
- (2019) Yang Liu et al. Molecular Genetics & Genomic Medicine
- Arrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience
- (2019) Simone Jhaveri et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
- Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
- (2019) Monika Meinert et al. OPHTHALMIC GENETICS
- A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for Disease Prevention, Novel Drug Design, and Therapy
- (2019) Rekha Khandia et al. Cells
- Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy
- (2019) Alexey V. Dvornikov et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Transcription factor NFE2L2/NRF2 modulates chaperone-mediated autophagy through the regulation of LAMP2A
- (2018) Marta Pajares et al. Autophagy
- A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease
- (2018) Polyxeni Gourzi et al. European Journal of Medical Genetics
- Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
- (2018) Francesco Mazzarotto et al. GENETICS IN MEDICINE
- Heart transplantation in Danon disease: A single family displaying diverse phenotypes
- (2018) Simon Poignant et al. JOURNAL OF HEART AND LUNG TRANSPLANTATION
- Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy
- (2018) Takeharu Hayashi et al. JOURNAL OF HUMAN GENETICS
- Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management
- (2018) Jonathan C.P. Roos et al. MOLECULAR GENETICS AND METABOLISM
- Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency
- (2018) Huan T. Nguyen et al. Scientific Reports
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
- (2018) Filip Majer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Cardiac Resynchronization Therapy-Pacemaker Implantation Guided by Three-Dimensional Electroanatomic Mapping for a Chinese Young Man with Danon Disease
- (2018) Lan-Yan Guo et al. CHINESE MEDICAL JOURNAL
- A Nationwide Survey on Danon Disease in Japan
- (2018) Kazuma Sugie et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- LAMP-2B regulates human cardiomyocyte function by mediating autophagosome–lysosome fusion
- (2018) Congwu Chi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene
- (2018) P. Codron et al. REVUE NEUROLOGIQUE
- A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy
- (2017) Liuyu Yu et al. EUROPEAN HEART JOURNAL
- Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy)
- (2017) Fatima Samad et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy
- (2017) Iulia Munteanu et al. NEUROMUSCULAR DISORDERS
- The role of transmission electron microscopy in vacuole-associated myopathies
- (2017) Valentina Papa et al. ULTRASTRUCTURAL PATHOLOGY
- Autophagy dysregulation in Danon disease
- (2017) Anna Chiara Nascimbeni et al. Cell Death & Disease
- Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing
- (2016) Lijun Fu et al. AMERICAN JOURNAL OF CARDIOLOGY
- Identification of Two Novel LAMP2 Gene Mutations in Danon Disease
- (2016) Beáta Csányi et al. CANADIAN JOURNAL OF CARDIOLOGY
- A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
- (2016) Irene Bottillo et al. CARDIOVASCULAR PATHOLOGY
- Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation InhibitorClinical Perspective
- (2016) Kwong-Man Ng et al. CIRCULATION
- The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA
- (2016) H. Cetin et al. CLINICAL GENETICS
- Danon disease – dysregulation of autophagy in a multisystem disorder with cardiomyopathy
- (2016) Teisha J. Rowland et al. JOURNAL OF CELL SCIENCE
- Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease
- (2016) Marco Marino et al. NEUROMUSCULAR DISORDERS
- Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene
- (2016) Kazuma Sugie et al. NEUROPATHOLOGY
- THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE
- (2016) Dorothy A. Thompson et al. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
- Danon disease: a phenotypic expression of LAMP-2 deficiency
- (2015) Yukari Endo et al. ACTA NEUROPATHOLOGICA
- Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance followup
- (2015) Hajnalka Vago et al. EUROPEAN HEART JOURNAL
- LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers
- (2015) Jakub Sikora et al. Journal of Cardiology
- Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes
- (2015) Yoko Hashida et al. Journal of Cardiology
- Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy
- (2015) I. Munteanu et al. NEUROLOGY
- Early onset cardiomyopathy in females with Danon disease
- (2015) Carola Hedberg Oldfors et al. NEUROMUSCULAR DISORDERS
- Treatment of depression in an adolescent with cardiomyopathy and arrhythmia
- (2014) Canan Tanidir et al. CARDIOLOGY IN THE YOUNG
- Danon Disease
- (2014) Ryan S. D’souza et al. Circulation-Heart Failure
- Asymptomatic Young Man with Danon Disease
- (2014) Jiwon Kim et al. TEXAS HEART INSTITUTE JOURNAL
- VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
- (2013) Nivetha Ramachandran et al. ACTA NEUROPATHOLOGICA
- Discovery of a novel type of autophagy targeting RNA
- (2013) Yuuki Fujiwara et al. Autophagy
- Danon disease
- (2013) J. He et al. HERZ
- Advantages of a Subcutaneous Implantable Cardioverter-Defibrillator inLAMP2Hypertrophic Cardiomyopathy
- (2013) ALY ZAKI et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
- Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
- (2013) Filip Majer et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Juvenile autophagic vacuolar myopathy - a new entity or variant?
- (2013) W. Stenzel et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Morphologic and Clinical Aspects of Danon Disease in a Patient with a Mutation c.137G > A in the LAMP-2 Gene
- (2013) Agnieszka Madej-Pilarczyk et al. NEUROPEDIATRICS
- Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease
- (2012) Akiko Furuta et al. ACTA NEUROPATHOLOGICA
- Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum
- (2012) Daojun Hong et al. CLINICAL NEUROPATHOLOGY
- Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease
- (2012) Xiao-Ling Chen et al. GENE
- Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
- (2012) F. Majer et al. GENE
- Cone-rod dystrophy can be a manifestation of Danon disease
- (2012) Alberta A. H. J. Thiadens et al. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
- Wolff-Parkinson-White Syndrome and Concentric Left Ventricular Hypertrophy in a Teenager
- (2012) Zhongwei Cheng et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Late profound muscle weakness following heart transplantation due to danon disease
- (2012) Pieter Van Der Starre et al. MUSCLE & NERVE
- Sudden Death Associated With Danon Disease in Women
- (2011) Daniela Miani et al. AMERICAN JOURNAL OF CARDIOLOGY
- Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging
- (2011) Bharat S. Dara et al. CARDIOLOGY IN THE YOUNG
- Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy
- (2011) Z. Cheng et al. EUROPEAN HEART JOURNAL
- Natural history of Danon disease
- (2011) Dana Boucek et al. GENETICS IN MEDICINE
- Utility of Real-Time 3-Dimensional Echocardiography and Magnetic Resonance Imaging for Evaluation of Danon Disease
- (2010) Hiroshi Tada et al. CIRCULATION
- LAMP2 Microdeletions in Patients With Danon Disease
- (2010) Zhao Yang et al. Circulation-Cardiovascular Genetics
- Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation
- (2010) Sarah-Louise Cottinet et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women
- (2010) Amir Toib et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Functional performance and muscle strength phenotypes in men and women with Danon disease
- (2010) Jennifer E. Stevens-Lapsley et al. MUSCLE & NERVE
- A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with danon disease
- (2010) Hunmin Kim et al. MUSCLE & NERVE
- Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
- (2009) Nobuhiro Dougu et al. CIRCULATION JOURNAL
- Cardioembolic stroke in Danon disease
- (2009) M Spinazzi et al. CLINICAL GENETICS
- Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy
- (2009) Barry J. Maron JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Danon disease: Case report and detection of new mutation
- (2009) G. Regelsberger et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Danon disease: Further clinical and molecular heterogeneity
- (2009) Frédérique Sabourdy et al. MUSCLE & NERVE
- EXTENSION OF THE CLINICAL SPECTRUM OF DANON DISEASE
- (2008) A. J. van der Kooi et al. NEUROLOGY
- Danon disease: A novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression
- (2008) Claudia Di Blasi et al. NEUROMUSCULAR DISORDERS
- Danon disease: A novel Lamp-2 gene mutation in a family with four affected members
- (2008) T. Tuñón et al. NEUROMUSCULAR DISORDERS
- Danon Disease: An Unusual Presentation of Autism
- (2008) Prinyarat Burusnukul et al. PEDIATRIC NEUROLOGY
- Danon disease with typical early-onset cardiomyopathy in a male: Focus on a novel LAMP-2 mutation
- (2008) Yen K. Bui et al. PEDIATRIC TRANSPLANTATION
- Danon disease due to a novel splice mutation in theLAMP2 gene
- (2007) Amelie Nadeau et al. MUSCLE & NERVE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started