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Items: 1 to 20 of 30

1.

Autophagic vacuolar myopathy.

Nishino I.

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

PMID:
17027858
2.

Autophagic vacuolar myopathies.

Nishino I.

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

PMID:
12507414
3.

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
4.

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
5.

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
6.

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
7.

Autophagy in lysosomal myopathies.

Malicdan MC, Nishino I.

Brain Pathol. 2012 Jan;22(1):82-8. doi: 10.1111/j.1750-3639.2011.00543.x. Review.

PMID:
22150923
8.

[Autophagic vacuolar myopathies: what we have learned from the differential diagnosis of vacuoles in muscle biopsy].

Zámečník J, Dahmen RA.

Cesk Patol. 2013 Jan;49(1):39-45. Review. Czech.

PMID:
23432075
9.

Danon disease: a phenotypic expression of LAMP-2 deficiency.

Endo Y, Furuta A, Nishino I.

Acta Neuropathol. 2015 Mar;129(3):391-8. doi: 10.1007/s00401-015-1385-4. Epub 2015 Jan 15. Review.

PMID:
25589223
10.

[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.

11.

Maturation of autophagic vacuoles in Mammalian cells.

Eskelinen EL.

Autophagy. 2005 Apr;1(1):1-10. Epub 2005 Apr 28. Review.

PMID:
16874026
13.

Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy.

Eskelinen EL.

Mol Aspects Med. 2006 Oct-Dec;27(5-6):495-502. Epub 2006 Sep 14. Review.

PMID:
16973206
14.

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.

15.

Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease.

Sulzer D, Mosharov E, Talloczy Z, Zucca FA, Simon JD, Zecca L.

J Neurochem. 2008 Jul;106(1):24-36. doi: 10.1111/j.1471-4159.2008.05385.x. Epub 2008 Apr 1. Review.

16.

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
17.

Welander distal myopathy--an overview.

Borg K, Ahlberg G, Anvret M, Edström L.

Neuromuscul Disord. 1998 Apr;8(2):115-8. Review.

PMID:
9608565
18.

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
19.

[X-linked myopathy with excessive autophagy].

Nishino I.

Ryoikibetsu Shokogun Shirizu. 2001;(36):230-2. Review. Japanese. No abstract available.

PMID:
11596377
20.

Electron microscopy in neuromuscular disorders.

Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF.

Ultrastruct Pathol. 2005 Nov-Dec;29(6):437-50. Review.

PMID:
16316944
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