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Items: 1 to 20 of 116

1.

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
2.

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.

3.

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
4.

LAMP2 microdeletions in patients with Danon disease.

Yang Z, Funke BH, Cripe LH, Vick GW 3rd, 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. doi: 10.1161/CIRCGENETICS.109.901785. Epub 2010 Feb 20.

5.

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
6.

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

Di Blasi C, Jarre L, Blasevich F, Dassi P, Mora M.

Neuromuscul Disord. 2008 Dec;18(12):962-6. doi: 10.1016/j.nmd.2008.09.008. Epub 2008 Nov 5.

PMID:
18990578
7.

Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy.

Cheng Z, Cui Q, Tian Z, Xie H, Chen L, Fang L, Zhu K, Fang Q.

Eur Heart J. 2012 Mar;33(5):649-56. doi: 10.1093/eurheartj/ehr420. Epub 2011 Nov 21.

8.

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
9.

Danon disease: case report and detection of new mutation.

Regelsberger G, Höftberger R, Pickl WF, Zlabinger GJ, Körmöczi U, Salzer-Muhar U, Luckner D, Bodamer OA, Mayr JA, Muss WH, Budka H, Bernheimer H.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S115-22. doi: 10.1007/s10545-009-1097-9. Epub 2009 Jul 7.

PMID:
19588270
10.

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
11.

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
12.

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
13.

Danon disease: focusing on heart.

Cheng Z, Fang Q.

J Hum Genet. 2012 Jul;57(7):407-10. doi: 10.1038/jhg.2012.72. Epub 2012 Jun 14. Review.

PMID:
22695892
14.

Sudden death associated with danon disease in women.

Miani D, Taylor M, Mestroni L, D'Aurizio F, Finato N, Fanin M, Brigido S, Proclemer A.

Am J Cardiol. 2012 Feb 1;109(3):406-11. doi: 10.1016/j.amjcard.2011.09.024. Epub 2011 Nov 9.

PMID:
22074992
15.

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
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. doi: 10.3109/01913123.2010.499024.

PMID:
21070164
17.

Gene symbol: LAMP2. Disease: Danon disease.

Iascone M, Iacovoni A, Marchetti D, Ferrazzi P.

Hum Genet. 2008 Jun;123(5):537. No abstract available.

PMID:
20960602
18.

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
19.

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. doi: 10.1016/j.gene.2012.06.064. Epub 2012 Jun 30.

PMID:
22750798
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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