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Items: 1 to 20 of 229

1.

Danon disease presenting with dilated cardiomyopathy and a complex phenotype.

Taylor MR, 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;52(10):830-5.

PMID:
17899313
2.

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.

Echaniz-Laguna A, Mohr M, Epailly E, Nishino I, Charron P, Richard P, Guiraud-Chaumeil C, Tranchant C.

Muscle Nerve. 2006 Mar;33(3):393-7.

PMID:
16372318
3.

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C.

Neuropediatrics. 2005 Oct;36(5):309-13.

PMID:
16217705
4.

LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.

Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T.

Intern Med. 2007;46(11):757-60. Epub 2007 Jun 1.

5.

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

Cottinet SL, Bergemer-Fouquet AM, Toutain A, Sabourdy F, Maakaroun-Vermesse Z, Levade T, Chantepie A, Labarthe F.

J Inherit Metab Dis. 2011 Apr;34(2):515-22. doi: 10.1007/s10545-010-9251-y. Epub 2010 Dec 16.

PMID:
21161685
6.

Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.

Bui YK, Renella P, Martinez-Agosto JA, Verity A, Madikians A, Alejos JC.

Pediatr Transplant. 2008 Mar;12(2):246-50. doi: 10.1111/j.1399-3046.2007.00874.x. Epub 2008 Feb 13.

PMID:
18282207
7.

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.

Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH.

Muscle Nerve. 2010 Jun;41(6):879-82. doi: 10.1002/mus.21614.

PMID:
20513107
8.

A novel vacuolar myopathy with dilated cardiomyopathy.

Sugimoto S.

Autophagy. 2007 Nov-Dec;3(6):638-9. Epub 2007 Aug 23.

PMID:
17873513
9.

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. Epub 2007 Dec 3.

PMID:
18061453
10.

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.

Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE.

Circulation. 2005 Sep 13;112(11):1612-7. Epub 2005 Sep 6.

11.

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. doi: 10.3109/01913123.2010.499024.

PMID:
21070164
12.

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 1;498(2):183-95. doi: 10.1016/j.gene.2012.02.004. Epub 2012 Feb 21.

PMID:
22365987
13.

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.

Balmer C, Ballhausen D, Bosshard NU, Steinmann B, Boltshauser E, Bauersfeld U, Superti-Furga A.

Eur J Pediatr. 2005 Aug;164(8):509-14. Epub 2005 May 12.

PMID:
15889279
14.

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.

PMID:
18004770
15.

[Danon disease: a case report and literature overview].

Catović S, Otasević P.

Srp Arh Celok Lek. 2007 Mar-Apr;135(3-4):197-200. Review. Serbian.

16.

Danon disease as a cause of autophagic vacuolar myopathy.

Yang Z, Vatta M.

Congenit Heart Dis. 2007 Nov-Dec;2(6):404-9. doi: 10.1111/j.1747-0803.2007.00132.x. Review.

PMID:
18377432
17.

Danon disease: further clinical and molecular heterogeneity.

Sabourdy F, Michelakakis H, Anastasakis A, Garcia V, Mavridou I, Nieto M, Pons MC, Skiadas C, Moraitou M, Manta P, Elleder M, Levade T.

Muscle Nerve. 2009 Jun;39(6):837-44. doi: 10.1002/mus.21252.

PMID:
19373884
18.

Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum.

Hong D, Shi Z, Wang Z, Yuan Y.

Clin Neuropathol. 2012 Jul-Aug;31(4):224-31. doi: 10.5414/NP300465.

PMID:
22541782
19.

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.

PMID:
16751040
20.

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. Epub 2008 Dec 5. Review.

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