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2) Nonaka I, Murakami N, Suzuki Y, et al. Distal myopathy with rimmed vacuoles. Neuromuscul Disord. 1998; 8: 333-7
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4) 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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6) Nishino I, Noguchi S, Murayama K, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 2002; 59: 1689-93
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7) Eisenberg I, Avidan N, Potikha T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001; 29: 83-7
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8) Eisenberg I, Grabov-Nardini G, Hochner H, et al. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat. 2003; 21: 99
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10) Noguchi S, Keira Y, Murayama K, et al. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem. 2004; 279: 11402-7
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12) Schwarzkopf M, Knobeloch KP, Rohde E, et al. Sialylation is essential for early development in mice. Porc Natl Acd Sci U S A. 2002; 99: 5267-70
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13) Galeano B, Klootwijk R, Manoli I, et al. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007; 117: 1585-94
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14) Malicdan MC, Noguchi S, Nonaka I, et al. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet. 2007; 16: 2669-82
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15) Malicdan MC, Noguchi S, Hayashi YK, et al. Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM. Physiol Genomics. 2008; 35: 106-15
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16) Malicdan MC, Noguchi S, Nishino I. Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives. Curr Opin Neurol. 2008; 21: 596-600
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17) Malicdan MC, Noguchi S, Hayashi YK, et al. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med. 2009; 15: 690-5
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18) Wang B, Downing JA, Petocz P, et al. Metabolic fate of intravenously administered N-acetylneuraminic acid-6-14C in newborn piglets. Asia Pac J Clin Nutr. 2007; 16: 110-5
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19) Salama I, Hinderlich S, Shlomai Z, et al. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem Biophys Res Commun. 2005; 328: 221-6
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20) Eisenberg I, Novershtern N, Itzhaki Z, et al. Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum Mol Genet. 2008; 17: 3663-74
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21) Amsili S, Zer H, Hinderlich S, et al. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? PLoS One. 2008; 3: e2477
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22) Broccolini A, Gidaro T, De Cristofaro R, et al. Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. J Neurochem. 2008; 105: 971-81
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