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1
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0019481203
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Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
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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.
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Nonaka, I.1
Sunohara, N.2
Ishiura, S.3
Satoyoshi, E.4
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3
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0033377221
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Distal myopathies
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Nonaka I. Distal myopathies. Curr Opin Neurol 1999;12:493-499.
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Nonaka, I.1
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'Rimmed vacuole myopathy' sparing the quadriceps: A unique disorder in Iranian Jews
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Argov Z, Yarom R. 'Rimmed vacuole myopathy' sparing the quadriceps: A unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43.
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Argov, Z.1
Yarom, R.2
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5
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0030063986
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Hereditary inclusion body myopathy maps to chromosome 9p1-q1
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Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet 1996;5:159-163.
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Mitrani-Rosenbaum, S.1
Argov, Z.2
Blumenfeld, A.3
Seidman, C.E.4
Seidman, J.G.5
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6
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0030933296
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Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
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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.
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Ikeuchi, T.1
Asaka, T.2
Saito, M.3
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7
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17944366749
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The UDP-Nacetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
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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.
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Eisenberg, I.1
Avidan, N.2
Potikha, T.3
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8
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0025867020
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Sialic acid metabolism in sialuria fibroblasts
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Seppala R, Tietze F, Kransnewich D, et al. Sialic acid metabolism in sialuria fibroblasts. J Biol Chem 1991;266:7456-7461.
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Seppala, R.1
Tietze, F.2
Kransnewich, D.3
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9
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0039546871
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Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene dine the disease sialuria and the allosteric site of the enzyme
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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.
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Seppala, R.1
Lehto, V.-P.2
Gahl, W.A.3
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10
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New York: Oxford University Press
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Lewin B. Genes VII, New York: Oxford University Press, 2000.
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Genes VII
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Lewin, B.1
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11
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0036217154
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Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerasse/N-acetylmannosamine kinase gene (GNE)
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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.
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Kayashima, T.1
Matsuo, H.2
Satoh, A.3
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12
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85036842217
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Search for a causative gene for distal myopathy with rimmed vacuoles
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Presented at the, May 30; Sapporo, Japan
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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.
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43rd Annual Meeting of the Japanese Neurological Society
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Arai, A.1
Ikeuchi, T.2
Igarashi, S.3
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13
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0033215205
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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
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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.
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Effertz, K.1
Hinderlich, S.2
Reuter, W.3
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