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Items: 1 to 20 of 127

1.

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
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.

[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.

5.

Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.

Fu L, Luo S, Cai S, Hong W, Guo Y, Wu J, Liu T, Zhao C, Li F, Huang H, Huang M, Wang J.

Am J Cardiol. 2016 Sep 15;118(6):888-94. doi: 10.1016/j.amjcard.2016.06.037. Epub 2016 Jun 27.

PMID:
27460667
6.

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.

PMID:
22108829
7.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG.

N Engl J Med. 2005 Jan 27;352(4):362-72.

8.

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, Almquist AK, Baffa JM, Saul JP, Ho CY, Seidman J, Seidman CE.

JAMA. 2009 Mar 25;301(12):1253-9. doi: 10.1001/jama.2009.371.

9.

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
10.

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
11.

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
12.

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
13.

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
14.

Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.

Horváth J, Ketelsen UP, Geibel-Zehender A, Boehm N, Olbrich H, Korinthenberg R, Omran H.

Neuropediatrics. 2003 Jun;34(5):270-3.

PMID:
14598234
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.

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
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.

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.

19.

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P.

Cardiovasc Pathol. 2016 Sep-Oct;25(5):423-31. doi: 10.1016/j.carpath.2016.07.005. Epub 2016 Jul 25. Review.

PMID:
27497751
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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