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Items: 1 to 20 of 194

1.

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
2.

Disease model: LAMP-2 enlightens Danon disease.

Saftig P, Tanaka Y, Lüllmann-Rauch R, von Figura K.

Trends Mol Med. 2001 Jan;7(1):37-9. Review.

PMID:
11427988
3.

Infantile autophagic vacuolar myopathy is distinct from Danon disease.

Yamamoto A, Morisawa Y, Verloes A, Murakami N, Hirano M, Nonaka I, Nishino I.

Neurology. 2001 Sep 11;57(5):903-5.

PMID:
11552028
4.

Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.

Lacoste-Collin L, Garcia V, Uro-Coste E, Arné-Bes MC, Durand D, Levade T, Delisle MB.

Neuromuscul Disord. 2002 Nov;12(9):882-5.

PMID:
12398843
5.

Clinicopathological features of genetically confirmed Danon disease.

Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I.

Neurology. 2002 Jun 25;58(12):1773-8. Review.

PMID:
12084876
6.

Autophagic vacuolar myopathy in twin girls.

Holton JL, Beesley C, Jackson M, Venner K, Bhardwaj N, Winchester B, Al-Memar A.

Neuropathol Appl Neurobiol. 2006 Jun;32(3):253-9.

PMID:
16640643
7.

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.

Tanaka Y, Guhde G, Suter A, Eskelinen EL, Hartmann D, Lüllmann-Rauch R, Janssen PM, Blanz J, von Figura K, Saftig P.

Nature. 2000 Aug 24;406(6798):902-6.

PMID:
10972293
8.

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
9.

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
10.

Autophagic vacuolar myopathy.

Nishino I.

Semin Pediatr Neurol. 2006 Jun;13(2):90-5. Review.

PMID:
17027858
11.

Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome.

Morisawa Y, Fujieda M, Murakami N, Naruse K, Okada T, Morita H, Sawada K, Miyazaki J, Kurashige T, Nonaka I.

J Neurol Sci. 1998 Oct 8;160(2):175-9.

PMID:
9849802
12.

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
13.

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
14.

[Danon disease].

Nishino I.

Ryoikibetsu Shokogun Shirizu. 2001;(36):225-9. Review. Japanese. No abstract available.

PMID:
11596375
15.

A novel vacuolar myopathy with dilated cardiomyopathy.

Sugimoto S.

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

PMID:
17873513
16.

Characterization of Danon disease in a male patient and his affected mother.

Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I.

Neuromuscul Disord. 2003 Nov;13(9):708-11.

PMID:
14561493
17.

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.

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.

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.

Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, Saftig P, von Figura K, Hirano M, Ueno S, Nonaka I, Nishino I.

J Neuropathol Exp Neurol. 2005 Jun;64(6):513-22.

PMID:
15977643
20.

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

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