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Items: 1 to 20 of 101

1.

Incremental value of three-dimensional strain imaging in Danon disease.

Miani D, Nucifora G, Piccoli G, Proclemer A, Badano LP.

Eur Heart J Cardiovasc Imaging. 2012 Oct;13(10):804. doi: 10.1093/ehjci/jes099. Epub 2012 May 10. No abstract available.

PMID:
22581284
2.

LAMP-2 deficiency (Danon disease).

Di Mauro S, Tanji K, Hirano M.

Acta Myol. 2007 Jul;26(1):79-82. No abstract available.

3.

Cardioembolic stroke in Danon disease.

Spinazzi M, Fanin M, Melacini P, Nascimbeni AC, Angelini C.

Clin Genet. 2008 Apr;73(4):388-90. doi: 10.1111/j.1399-0004.2008.00971.x. Epub 2008 Feb 26. No abstract available.

PMID:
18312451
4.

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.

5.

Extension of the clinical spectrum of Danon disease.

van der Kooi AJ, van Langen IM, Aronica E, van Doorn PA, Wokke JH, Brusse E, Langerhorst CT, Bergin P, Dekker LR, dit Deprez RH, de Visser M.

Neurology. 2008 Apr 15;70(16):1358-9. doi: 10.1212/01.wnl.0000309219.61785.b3. No abstract available.

PMID:
18413590
6.

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
7.

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
8.

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
9.

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
10.

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.

11.

Retinopathy in Danon disease.

Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A, Munier FL.

Arch Ophthalmol. 2007 Feb;125(2):231-6.

PMID:
17296900
12.

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
13.

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
14.

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
15.

Natural history of Danon disease.

Boucek D, Jirikowic J, Taylor M.

Genet Med. 2011 Jun;13(6):563-8. doi: 10.1097/GIM.0b013e31820ad795.

PMID:
21415759
16.

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
17.

Gene symbol: LAMP2. Disease: Glycogen storage disease 2b.

Viéitez I, Teijeira S, Miranda S, San Millán B, Navarro C.

Hum Genet. 2008 Feb;123(1):113. No abstract available.

PMID:
18386377
18.

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
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.

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

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