Associated Papers
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
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I et al.
Autophagy, 2022
35383530 (PubMed )
Supplement: supplement_1.pdf
New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.
Sivitskaya L et al.
Folia Medica, 2022
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
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Fernández L et al.
Clinical Genetics, 2021
A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.
Xu J et al.
Molecular Genetics & Genomic Medicine, 2019
Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue.
Kresin N et al.
Frontiers in Physiology, 2019
Autophagy and lysosomal pathways in nervous system disorders.
Bingol B
Molecular and Cellular Neurosciences, 2018
Select a paper to view details