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Volumn 65, Issue 7, 2005, Pages 1132-1134

A new congenital form of X-linked autophagic vacuolar myopathy

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; COMPLEMENT MEMBRANE ATTACK COMPLEX;

EID: 26444512662     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000178979.19887.f5     Document Type: Article
Times cited : (27)

References (10)
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    • Sugie K, Noguchi S, Kozuka Y, et al. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol 2005;64:513-522.
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    • Sugie, K.1    Noguchi, S.2    Kozuka, Y.3
  • 2
    • 17044440789 scopus 로고    scopus 로고
    • Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    • Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000;406:906-910.
    • (2000) Nature , vol.406 , pp. 906-910
    • Nishino, I.1    Fu, J.2    Tanji, K.3
  • 3
    • 0023903542 scopus 로고
    • Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq
    • Saviranta P, Lindlof M, Lehesjoki AE, et al. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am J Hum Genet 1988;42:84-88.
    • (1988) Am J Hum Genet , vol.42 , pp. 84-88
    • Saviranta, P.1    Lindlof, M.2    Lehesjoki, A.E.3
  • 4
    • 0035845703 scopus 로고    scopus 로고
    • Infantile autophagic vacuolar myopathy is distinct from Danon disease
    • Yamamoto A, Morisawa Y, Verloes A, et al. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Neurology 2001;57:903-905.
    • (2001) Neurology , vol.57 , pp. 903-905
    • Yamamoto, A.1    Morisawa, Y.2    Verloes, A.3
  • 5
    • 0038015270 scopus 로고    scopus 로고
    • A novel form of autophagic vacuolar myopathy with late-onset and multi-organ involvement
    • Kaneda D, Sugie K, Yamamoto A, et al. A novel form of autophagic vacuolar myopathy with late-onset and multi-organ involvement. Neurology 2003;61:128-131.
    • (2003) Neurology , vol.61 , pp. 128-131
    • Kaneda, D.1    Sugie, K.2    Yamamoto, A.3
  • 6
    • 0029029309 scopus 로고
    • X-linked vacuolated myopathy: Complement membrane attack complex on surface membrane injured muscle fibers
    • Villanova M, Louboutin JP, Chateau D, et al. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane injured muscle fibers. Ann Neurol 1995;37:637-645.
    • (1995) Ann Neurol , vol.37 , pp. 637-645
    • Villanova, M.1    Louboutin, J.P.2    Chateau, D.3
  • 7
    • 0037183524 scopus 로고    scopus 로고
    • Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy
    • Minassian BA, Aiyar R, Alic S, et al. Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology 2002;59:596-601.
    • (2002) Neurology , vol.59 , pp. 596-601
    • Minassian, B.A.1    Aiyar, R.2    Alic, S.3
  • 8
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    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996;58:1347-1363.
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 9
    • 0038718698 scopus 로고    scopus 로고
    • MAP-LC3, a promising autophagosomal marker, is processed during the differentiation and recovery of podocytes from PAN nephrosis
    • Anasuma K, Tanida I, Shirato I, et al. MAP-LC3, a promising autophagosomal marker, is processed during the differentiation and recovery of podocytes from PAN nephrosis. FASEB J 2003;17:1165-1167.
    • (2003) FASEB J , vol.17 , pp. 1165-1167
    • Anasuma, K.1    Tanida, I.2    Shirato, I.3
  • 10
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    • X-linked vacuolated myopathy: Membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.