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220 related items for PubMed ID: 27179547
41. 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 10; 507(2):174-6. PubMed ID: 22750798 [Abstract] [Full Text] [Related]
43. [Clinical characterization of patients with Danon disease]. He JQ, Wang Y, Meng Y, Chen L, Jiang TY. Zhonghua Xin Xue Guan Bing Za Zhi; 2013 Jul 10; 41(7):594-7. PubMed ID: 24284189 [Abstract] [Full Text] [Related]
44. Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. Codron P, Pautot V, Tassin A, Sternberg D, Letournel F, Richard P, Nadaj-Pakleza A. Rev Neurol (Paris); 2019 Mar 10; 175(3):201-203. PubMed ID: 30527948 [No Abstract] [Full Text] [Related]
45. Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature. Shalata A, Bar-Shai M, Hadid Y, Mahroum M, Mintz H, Shalata ZE, Radzishevsky E, Genizi J, Lorber A, Ben-Yosef T, Yaniv L. Genes (Basel); 2023 Jul 27; 14(8):. PubMed ID: 37628591 [Abstract] [Full Text] [Related]
50. Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation). Yardeni M, Weisman O, Mandel H, Weinberger R, Quarta G, Salazar-Mendiguchía J, Garcia-Pavia P, Lobato-Rodríguez MJ, Simon LF, Dov F, Arad M, Gothelf D. Am J Med Genet A; 2017 Sep 27; 173(9):2461-2466. PubMed ID: 28627787 [Abstract] [Full Text] [Related]
51. Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy. Dvornikov AV, Wang M, Yang J, Zhu P, Le T, Lin X, Cao H, Xu X. J Mol Cell Cardiol; 2019 Aug 27; 133():199-208. PubMed ID: 31228518 [Abstract] [Full Text] [Related]
52. A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. Maron BJ. Eur Heart J; 2012 Mar 27; 33(5):570-2. PubMed ID: 22187509 [No Abstract] [Full Text] [Related]
54. Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene. Fidzianska A, Madej-Pilarczyk A, Walczak E, Kuch M. Neuropediatrics; 2013 Oct 27; 44(5):276-80. PubMed ID: 23504560 [Abstract] [Full Text] [Related]
55. Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study. Gurka J, Piherova L, Majer F, Chaloupka A, Zakova D, Pelak O, Krebsova A, Peichl P, Krejci J, Freiberger T, Melenovsky V, Kautzner J, Kalina T, Sikora J, Kubanek M. ESC Heart Fail; 2020 Oct 27; 7(5):2534-2543. PubMed ID: 32657043 [Abstract] [Full Text] [Related]
56. Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry. López-Sainz Á, Salazar-Mendiguchía J, García-Álvarez A, Campuzano Larrea O, López-Garrido MÁ, García-Guereta L, Fuentes Cañamero ME, Climent Payá V, Peña-Peña ML, Zorio-Grima E, Jordá-Burgos P, Díez-López C, Brugada R, García-Pinilla JM, García-Pavía P. Rev Esp Cardiol (Engl Ed); 2019 Jun 27; 72(6):479-486. PubMed ID: 30108015 [Abstract] [Full Text] [Related]
57. 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 27; 182(1):219-223. PubMed ID: 31729179 [Abstract] [Full Text] [Related]
58. 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, Familial Cardiomyopathy Registry. J Hum Genet; 2007 Jan 27; 52(10):830-835. PubMed ID: 17899313 [Abstract] [Full Text] [Related]
59. Gene symbol: LAMP2. Disease: Danon disease. Iascone M, Iacovoni A, Marchetti D, Ferrazzi P. Hum Genet; 2008 Jun 27; 123(5):537. PubMed ID: 20960602 [No Abstract] [Full Text] [Related]
60. Danon disease as a cause of autophagic vacuolar myopathy. Yang Z, Vatta M. Congenit Heart Dis; 2007 Jun 27; 2(6):404-9. PubMed ID: 18377432 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]