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Items: 1 to 20 of 207

1.

Autophagic vacuolar myopathy.

Nishino I.

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

PMID:
17027858
2.

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
3.

[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies].

Nishino I.

Rinsho Shinkeigaku. 2010 Jan;50(1):1-6. Japanese.

PMID:
20120346
4.

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
5.

Autophagic vacuolar myopathies.

Nishino I.

Curr Neurol Neurosci Rep. 2003 Jan;3(1):64-9. Review.

PMID:
12507414
6.

A novel vacuolar myopathy with dilated cardiomyopathy.

Sugimoto S.

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

PMID:
17873513
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.

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I.

Neuromuscul Disord. 2008 Jul;18(7):521-9. doi: 10.1016/j.nmd.2008.04.010. Epub 2008 May 27. Review.

PMID:
18502640
9.

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.

10.

Case of X-linked myopathy with excessive autophagy.

Chow G, Beesley CE, Robson K, Winchester BG, Holton JL.

J Child Neurol. 2006 May;21(5):431-3.

PMID:
16901453
11.

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
12.

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
13.

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
14.

X-linked myopathy with excessive autophagy: a failure of self-eating.

Dowling JJ, Moore SA, Kalimo H, Minassian BA.

Acta Neuropathol. 2015 Mar;129(3):383-90. doi: 10.1007/s00401-015-1393-4. Epub 2015 Feb 3. Review.

PMID:
25644398
15.

A new congenital form of X-linked autophagic vacuolar myopathy.

Yan C, Tanaka M, Sugie K, Nobutoki T, Woo M, Murase N, Higuchi Y, Noguchi S, Nonaka I, Hayashi YK, Nishino I.

Neurology. 2005 Oct 11;65(7):1132-4.

PMID:
16217076
16.

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
17.

A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement.

Kaneda D, Sugie K, Yamamoto A, Matsumoto H, Kato T, Nonaka I, Nishino I.

Neurology. 2003 Jul 8;61(1):128-31.

PMID:
12847175
18.

Disease model: LAMP-2 enlightens Danon disease.

Saftig P, Tanaka Y, L├╝llmann-Rauch R, von Figura K.

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

PMID:
11427988
19.

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy.

Murakami N, Goto Y, Itoh M, Katsumi Y, Wada T, Ozawa E, Nonaka I.

Neuromuscul Disord. 1995 Mar;5(2):149-55.

PMID:
7539316
20.

An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.

Kepron C, Blumenthal A, Chitayat D, Cutz E, Superti-Furga A, Keating S.

Pediatr Dev Pathol. 2009 Jan-Feb;12(1):53-8. doi: 10.2350/07-11-03670.1.

PMID:
19243213

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