메뉴 건너뛰기




Volumn 59, Issue 11, 2002, Pages 1689-1693

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE;

EID: 0037058765     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000041631.28557.C6     Document Type: Article
Times cited : (213)

References (13)
  • 1
    • 0019481203 scopus 로고
    • Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
    • Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155.
    • (1981) J Neurol Sci , vol.51 , pp. 141-155
    • Nonaka, I.1    Sunohara, N.2    Ishiura, S.3    Satoyoshi, E.4
  • 3
    • 0033377221 scopus 로고    scopus 로고
    • Distal myopathies
    • Nonaka I. Distal myopathies. Curr Opin Neurol 1999;12:493-499.
    • (1999) Curr Opin Neurol , vol.12 , pp. 493-499
    • Nonaka, I.1
  • 4
    • 0021320516 scopus 로고
    • 'Rimmed vacuole myopathy' sparing the quadriceps: A unique disorder in Iranian Jews
    • Argov Z, Yarom R. 'Rimmed vacuole myopathy' sparing the quadriceps: A unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43.
    • (1984) J Neurol Sci , vol.64 , pp. 33-43
    • Argov, Z.1    Yarom, R.2
  • 6
    • 0030933296 scopus 로고    scopus 로고
    • Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
    • Ikeuchi T, Asaka T, Saito M, et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997;41:432-437.
    • (1997) Ann Neurol , vol.41 , pp. 432-437
    • Ikeuchi, T.1    Asaka, T.2    Saito, M.3
  • 7
    • 17944366749 scopus 로고    scopus 로고
    • The UDP-Nacetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
    • Eisenberg I, Avidan N, Potikha T, et al. The UDP-Nacetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29:83-87.
    • (2001) Nat Genet , vol.29 , pp. 83-87
    • Eisenberg, I.1    Avidan, N.2    Potikha, T.3
  • 8
    • 0025867020 scopus 로고
    • Sialic acid metabolism in sialuria fibroblasts
    • Seppala R, Tietze F, Kransnewich D, et al. Sialic acid metabolism in sialuria fibroblasts. J Biol Chem 1991;266:7456-7461.
    • (1991) J Biol Chem , vol.266 , pp. 7456-7461
    • Seppala, R.1    Tietze, F.2    Kransnewich, D.3
  • 9
    • 0039546871 scopus 로고    scopus 로고
    • Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene dine the disease sialuria and the allosteric site of the enzyme
    • Seppala R, Lehto V-P, Gahl WA. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene dine the disease sialuria and the allosteric site of the enzyme. Am J Hum Genet 1999;64:1563-1569.
    • (1999) Am J Hum Genet , vol.64 , pp. 1563-1569
    • Seppala, R.1    Lehto, V.-P.2    Gahl, W.A.3
  • 10
    • 0004238344 scopus 로고    scopus 로고
    • New York: Oxford University Press
    • Lewin B. Genes VII, New York: Oxford University Press, 2000.
    • (2000) Genes VII
    • Lewin, B.1
  • 11
    • 0036217154 scopus 로고    scopus 로고
    • Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerasse/N-acetylmannosamine kinase gene (GNE)
    • Kayashima T, Matsuo H, Satoh A, et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerasse/N-acetylmannosamine kinase gene (GNE). J Hum Genet 2002;47:77-79.
    • (2002) J Hum Genet , vol.47 , pp. 77-79
    • Kayashima, T.1    Matsuo, H.2    Satoh, A.3
  • 12
    • 85036842217 scopus 로고    scopus 로고
    • Search for a causative gene for distal myopathy with rimmed vacuoles
    • Presented at the, May 30; Sapporo, Japan
    • Arai A, Ikeuchi T, Igarashi S, et al. Search for a causative gene for distal myopathy with rimmed vacuoles [in Japanese]. Presented at the 43rd Annual Meeting of the Japanese Neurological Society, May 30, 2002; Sapporo, Japan.
    • (2002) 43rd Annual Meeting of the Japanese Neurological Society
    • Arai, A.1    Ikeuchi, T.2    Igarashi, S.3
  • 13
    • 0033215205 scopus 로고    scopus 로고
    • Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments
    • Effertz K, Hinderlich S, Reuter W. Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments. J Biol Chem 1999;274:28771-28778.
    • (1999) J Biol Chem , vol.274 , pp. 28771-28778
    • Effertz, K.1    Hinderlich, S.2    Reuter, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.