Associated Papers
Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.
Emfietzoglou M et al.
Acta Ophthalmologica, 2026
Danon disease: From genetic origins and molecular defects to therapeutic advances.
Chaudhary R et al.
Disease-a-month : Dm, 2025
Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.
Zhang Q et al.
The Canadian Journal of Cardiology, 2025
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.
Narayan A et al.
Ophthalmic Genetics, 2024
Clinical features of pediatric Danon disease and the importance of early diagnosis.
Gandaeva L et al.
International Journal of Cardiology, 2023
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A et al.
Genes, 2023
[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
Hadid Y et al.
Harefuah, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Danon disease: a case report and literature review.
Xu J et al.
Diagnostic Pathology, 2021
Clinical and molecular characterization of seven patients with Danon disease.
Wang XY et al.
Experimental and Therapeutic Medicine, 2021
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Fernández L et al.
Clinical Genetics, 2021
An unusual case of severe myocarditis in a genetic cardiomyopathy: a case report.
Popa MA et al.
European Heart Journal. Case Reports, 2020
Review: Danon disease: Review of natural history and recent advances.
Cenacchi G et al.
Neuropathology and Applied Neurobiology, 2020
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.
Gourzi P et al.
European Journal of Medical Genetics, 2019
A Nationwide Survey on Danon Disease in Japan.
Sugie K et al.
International Journal of Molecular Sciences, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.
Forleo C et al.
Plos One, 2017
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease.
Nemazanyy I et al.
Embo Molecular Medicine, 2013
Danon disease: further clinical and molecular heterogeneity.
Sabourdy F et al.
Muscle & Nerve, 2009
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
Bertini E et al.
Neuropediatrics, 2005
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
Arad M et al.
The New England Journal of Medicine, 2005
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
Bottillo I et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0