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Items: 1 to 20 of 183

1.

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
2.

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
3.

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
4.

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
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.

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
7.

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
8.

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.

9.

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
10.

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
11.

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
12.

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.

13.

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.

Nature. 2000 Aug 24;406(6798):906-10.

PMID:
10972294
14.

[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.

15.

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
16.

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
17.

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
18.

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).

Lobrinus JA, Schorderet DF, Payot M, Jeanrenaud X, Bottani A, Superti-Furga A, Schlaepfer J, Fromer M, Jeannet PY.

Neuromuscul Disord. 2005 Apr;15(4):293-8.

PMID:
15792868
19.

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.

20.

[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.

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