Associated Papers
Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.
Emfietzoglou M et al.
Acta Ophthalmologica, 2026
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.
Narayan A et al.
Ophthalmic Genetics, 2024
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy.
Captur G et al.
Circulation. Genomic and Precision Medicine, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A et al.
Genes, 2023
Danon disease: a case report and literature review.
Xu J et al.
Diagnostic Pathology, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
Quiat D et al.
Journal of the American Heart Association, 2020
Heart transplantation in Danon disease: Long term single centre experience and review of the literature.
Di Nora C et al.
European Journal of Medical Genetics, 2020
Autophagy dysregulation in Danon disease.
Nascimbeni AC et al.
Cell Death & Disease, 2017
Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.
Fu L et al.
The American Journal of Cardiology, 2016
THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE.
Thompson DA et al.
Retina (philadelphia, Pa.), 2016
Abstracts of the 52nd ISCEV International Symposium, July 10-15, 2014, Boston, MA.
Unknown Author
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Sudden death associated with danon disease in women.
Miani D et al.
The American Journal of Cardiology, 2012
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
Dougu N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
Fanin M et al.
The American Journal of Pathology, 2006