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Items: 1 to 20 of 154

1.

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
2.

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
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.

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.

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.

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.

Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S.

Neuropathology. 2016 Dec;36(6):561-565. doi: 10.1111/neup.12307. Epub 2016 May 5.

PMID:
27145725
7.

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
8.

[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.

9.

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
10.

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
11.

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.

12.

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
13.

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
14.

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
15.

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
16.

A novel vacuolar myopathy with dilated cardiomyopathy.

Sugimoto S.

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

PMID:
17873513
17.

[Morphological and clinical aspects of Danon disease].

Fidziańska A, Walczak E, Walski M, Wiśniewska E, Wagner T, Kuch M.

Kardiol Pol. 2008 Mar;66(3):302-6. Polish.

18.

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
19.

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
20.

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Messina C, Vita G, Toscano A.

Neuromuscul Disord. 2005 Jun;15(6):409-11. Epub 2005 Apr 19.

PMID:
15907287

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