1) Nonaka I, Sunohara N, Ishiura S, et al. Familad distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci. 1981; 51: 141-55
|
|
|
2) Nonaka I, Murakami N, Suzuki Y, et al. Distal myopathy with rimmed vacuoles. Neuromuscul Disord. 1998; 8: 333-7
|
|
|
3) Nonaka I. Distal myopathies. Curr Opin Neurol. 1999; 12: 493-9
|
|
|
4) Argov Z, Yarom R. ‘Rimmed vacuole myopathy' sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci. 1984; 64: 33-43
|
|
|
5) Askanas V, Engel WK. Sportadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol. 1998; 10: 530-42
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
9) Argov Z, Eisenberg I, Grav-Nardini G, et al. Hereditary inclusion body myopathy: The middle Eastern genetic cluster. Neurology. 2003; 60: 1519-23
|
|
|
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
|
|
|
11) Bardor M, Nguyen DH, Diaz S, et al. J Biol Chem. 2005; 280: 4228-37
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|