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4. 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. Majer F; Vlaskova H; Krol L; Kalina T; Kubanek M; Stolnaya L; Dvorakova L; Elleder M; Sikora J Gene; 2012 May; 498(2):183-95. PubMed ID: 22365987 [TBL] [Abstract][Full Text] [Related]
5. Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report. Novelli V; Bisignani A; Pelargonio G; Primiano G; Narducci ML; Palmieri V; Tiziano FD; Zeppilli P; Servidei S; Crea F; Genuardi M BMC Cardiovasc Disord; 2020 Apr; 20(1):156. PubMed ID: 32248794 [TBL] [Abstract][Full Text] [Related]
6. Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. Fu L; Luo S; Cai S; Hong W; Guo Y; Wu J; Liu T; Zhao C; Li F; Huang H; Huang M; Wang J Am J Cardiol; 2016 Sep; 118(6):888-894. PubMed ID: 27460667 [TBL] [Abstract][Full Text] [Related]
7. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a Meinert M; Englund E; Hedberg-Oldfors C; Oldfors A; Kornhall B; Lundin C; Wittström E Ophthalmic Genet; 2019 Jun; 40(3):227-236. PubMed ID: 31264915 [No Abstract] [Full Text] [Related]
8. Arrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience. Jhaveri S; Herber J; Zahka K; Boyle GJ; Saarel EV; Aziz PF J Cardiovasc Electrophysiol; 2019 Oct; 30(10):1932-1938. PubMed ID: 31240821 [TBL] [Abstract][Full Text] [Related]
9. LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected? Majer F; Piherova L; Reboun M; Stara V; Pelak O; Norambuena P; Stranecky V; Krebsova A; Vlaskova H; Dvorakova L; Kmoch S; Kalina T; Kubanek M; Sikora J Am J Med Genet A; 2018 Nov; 176(11):2430-2434. PubMed ID: 30194816 [TBL] [Abstract][Full Text] [Related]
10. 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; Pantou MP; Gkouziouta A; Kaklamanis L; Tsiapras D; Zygouri C; Constantoulakis P; Adamopoulos S; Degiannis D Eur J Med Genet; 2019 Jan; 62(1):77-80. PubMed ID: 29753918 [TBL] [Abstract][Full Text] [Related]
11. Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Majer F; Kousal B; Dusek P; Piherova L; Reboun M; Mihalova R; Gurka J; Krebsova A; Vlaskova H; Dvorakova L; Krihova J; Liskova P; Kmoch S; Kalina T; Kubanek M; Sikora J Am J Med Genet A; 2020 Jan; 182(1):219-223. PubMed ID: 31729179 [TBL] [Abstract][Full Text] [Related]
12. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. Maron BJ; Roberts WC; Arad M; Haas TS; Spirito P; Wright GB; Almquist AK; Baffa JM; Saul JP; Ho CY; Seidman J; Seidman CE JAMA; 2009 Mar; 301(12):1253-9. PubMed ID: 19318653 [TBL] [Abstract][Full Text] [Related]
13. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. Kousal B; Majer F; Vlaskova H; Dvorakova L; Piherova L; Meliska M; Langrova H; Palecek T; Kubanek M; Krebsova A; Gurka J; Stara V; Michaelides M; Kalina T; Sikora J; Liskova P Acta Ophthalmol; 2021 Feb; 99(1):61-68. PubMed ID: 32533651 [TBL] [Abstract][Full Text] [Related]
14. Danon disease: Gender differences in presentation and outcomes. Brambatti M; Caspi O; Maolo A; Koshi E; Greenberg B; Taylor MRG; Adler ED Int J Cardiol; 2019 Jul; 286():92-98. PubMed ID: 30857840 [TBL] [Abstract][Full Text] [Related]
15. Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease. Wang Y; Bai M; Zhang P; Peng Y; Chen Z; He Z; Xu J; Zhu Y; Yan D; Wang R; Zhang Z Mol Genet Genomic Med; 2023 Sep; 11(9):e2216. PubMed ID: 37288668 [TBL] [Abstract][Full Text] [Related]
16. A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease. Türkmen H; Uysal F; Bostan ÖM Cardiol Young; 2023 Aug; 33(8):1448-1450. PubMed ID: 36601912 [TBL] [Abstract][Full Text] [Related]
17. Danon disease: a case report and literature review. Xu J; Li Z; Liu Y; Zhang X; Niu F; Zheng H; Wang L; Kang L; Wang K; Xu B Diagn Pathol; 2021 May; 16(1):39. PubMed ID: 33933120 [TBL] [Abstract][Full Text] [Related]
18. 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; Giordano C; Cerbelli B; D'Angelantonio D; Lipari M; Polidori T; Majore S; Bertini E; D'Amico A; Giannarelli D; De Bernardo C; Masuelli L; Musumeci F; Avella A; Re F; Zachara E; d'Amati G; Grammatico P Cardiovasc Pathol; 2016; 25(5):423-31. PubMed ID: 27497751 [TBL] [Abstract][Full Text] [Related]
19. A case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene. Zhang Y; Ren H; Zhou S Medicine (Baltimore); 2020 Oct; 99(40):e22640. PubMed ID: 33019488 [TBL] [Abstract][Full Text] [Related]
20. International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review. Hong KN; Eshraghian EA; Arad M; Argirò A; Brambatti M; Bui Q; Caspi O; de Frutos F; Greenberg B; Ho CY; Kaski JP; Olivotto I; Taylor MRG; Yesso A; Garcia-Pavia P; Adler ED J Am Coll Cardiol; 2023 Oct; 82(16):1628-1647. PubMed ID: 37821174 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]