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
38847081 (PubMed )
Supplement: hcg-17-e004448-s001.pdf
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A et al.
Genes, 2023
37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Missense_nonsense-44_Mutations
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1
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
Autophagy dysregulation in Danon disease.
Nascimbeni AC et al.
Cell Death & Disease, 2017
28102838 (PubMed )
Supplement: cddis2016475x2.pdf
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
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
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