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2. THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE. Thompson DA; Constable PA; Liasis A; Walters B; Esteban MT Retina; 2016 Mar; 36(3):629-38. PubMed ID: 26398689 [TBL] [Abstract][Full Text] [Related]
3. Cone-rod dystrophy can be a manifestation of Danon disease. Thiadens AA; Slingerland NW; Florijn RJ; Visser GH; Riemslag FC; Klaver CC Graefes Arch Clin Exp Ophthalmol; 2012 May; 250(5):769-74. PubMed ID: 22290069 [TBL] [Abstract][Full Text] [Related]
4. Ophthalmic manifestations of Danon disease. Prall FR; Drack A; Taylor M; Ku L; Olson JL; Gregory D; Mestroni L; Mandava N Ophthalmology; 2006 Jun; 113(6):1010-3. PubMed ID: 16751040 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. LAMP2 microdeletions in patients with Danon disease. Yang Z; Funke BH; Cripe LH; Vick GW; Mancini-Dinardo D; Peña LS; Kanter RJ; Wong B; Westerfield BH; Varela JJ; Fan Y; Towbin JA; Vatta M Circ Cardiovasc Genet; 2010 Apr; 3(2):129-37. PubMed ID: 20173215 [TBL] [Abstract][Full Text] [Related]
7. Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. Tuñón T; Guerrero D; Urchaga A; Nishino I; Ayuso T; Matsuda Y; Caballero MC; Berjón J; Imizcoz MA Neuromuscul Disord; 2008 Feb; 18(2):167-74. PubMed ID: 18061453 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. Fukushima M; Inoue T; Miyai T; Obata R Eur J Ophthalmol; 2020 May; 30(3):570-578. PubMed ID: 30836785 [TBL] [Abstract][Full Text] [Related]
11. Danon disease due to a novel splice mutation in the LAMP2 gene. Nadeau A; Therrien C; Karpati G; Sinnreich M Muscle Nerve; 2008 Mar; 37(3):338-42. PubMed ID: 18004770 [TBL] [Abstract][Full Text] [Related]
12. Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor. Ng KM; Mok PY; Butler AW; Ho JC; Choi SW; Lee YK; Lai WH; Au KW; Lau YM; Wong LY; Esteban MA; Siu CW; Sham PC; Colman A; Tse HF Circulation; 2016 Nov; 134(18):1373-1389. PubMed ID: 27678261 [TBL] [Abstract][Full Text] [Related]
14. Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. Dougu N; Joho S; Shan L; Shida T; Matsuki A; Uese K; Hirono K; Ichida F; Tanaka K; Nishino I; Inoue H Circ J; 2009 Feb; 73(2):376-80. PubMed ID: 19057086 [TBL] [Abstract][Full Text] [Related]
15. Danon disease presenting with dilated cardiomyopathy and a complex phenotype. Taylor MRG; Ku L; Slavov D; Cavanaugh J; Boucek M; Zhu X; Graw S; Carniel E; Barnes C; Quan D; Prall R; Lovell MA; Mierau G; Ruegg P; Mandava N; Bristow MR; Towbin JA; Mestroni L; J Hum Genet; 2007; 52(10):830-835. PubMed ID: 17899313 [TBL] [Abstract][Full Text] [Related]
16. Electron microscopic findings in skin biopsies from patients with Danon disease. Alroy J; Pfannl R; Slavov D; Taylor MR Ultrastruct Pathol; 2010 Dec; 34(6):333-6. PubMed ID: 21070164 [TBL] [Abstract][Full Text] [Related]
17. Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. Chen XL; Zhao Y; Ke HP; Liu WT; Du ZF; Zhang XN Gene; 2012 Oct; 507(2):174-6. PubMed ID: 22750798 [TBL] [Abstract][Full Text] [Related]