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Items: 1 to 20 of 102

1.

Late profound muscle weakness following heart transplantation due to Danon disease.

Van Der Starre P, Deuse T, Pritts C, Brun C, Vogel H, Oyer P.

Muscle Nerve. 2013 Jan;47(1):135-7. doi: 10.1002/mus.23517. Epub 2012 Nov 21.

PMID:
23168931
2.

Consider Danon disease in dilated cardiomyopathy with noncompaction.

Stöllberger C, Finsterer J.

Muscle Nerve. 2013 Jul;48(1):152-3. doi: 10.1002/mus.23790. Epub 2013 May 8. No abstract available.

PMID:
23653338
3.

Reply: To PMID 23168931.

van der Starre PJ.

Muscle Nerve. 2013 Jul;48(1):153. doi: 10.1002/mus.23799. Epub 2013 May 22. No abstract available.

PMID:
23695897
4.

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
5.

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
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.

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
8.

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
9.

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
10.

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
11.

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
12.

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
13.

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
14.

[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.

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.

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
17.

Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity.

Luo SS, Xi JY, Cai S, Zhao CB, Lu JH, Zhu WH, Lin J, Qiao K, Wang Y, Ye ZR.

Clin Neuropathol. 2014 Jul-Aug;33(4):284-91. doi: 10.5414/NP300668.

PMID:
24691104
18.

Danon disease: an unusual presentation of autism.

Burusnukul P, de Los Reyes EC, Yinger J, Boué DR.

Pediatr Neurol. 2008 Jul;39(1):52-4. doi: 10.1016/j.pediatrneurol.2008.03.011.

PMID:
18555174
19.

Acute myopathy of intensive care: clinical, electromyographic, and pathological aspects.

Lacomis D, Giuliani MJ, Van Cott A, Kramer DJ.

Ann Neurol. 1996 Oct;40(4):645-54.

PMID:
8871585
20.

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.

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