| 1 | GNE, IBM2
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| Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
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| Cai H, Yabe I, Sato K, Kano T, Nakamura M, Hozen H, Sasaki H.
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| J Neurol 259(9):1913-22. doi: 10.1007/s00415-012-6439-0. Epub 2012 Feb 17.
2012
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| 2 | GNE, IBM2
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| Muscle imaging findings in GNE myopathy.
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| Tasca G, Ricci E, Monforte M, Laschena F, Ottaviani P, Rodolico C, Barca E, Silvestri G, Iannaccone E, Mirabella M, Broccolini A.
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| J Neurol 259(7):1358-65. doi: 10.1007/s00415-011-6357-6. Epub 2012 Jan 10.
2012
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| 3 | GNE, IBM2
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| Novel GNE mutations in two phenotypically distinct HIBM2 patients.
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| Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M.
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| Neuromuscul Disord 21(2):102-5. Epub 2010 Dec 4.
2011
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| 4 | GNE, IBM2
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| Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.
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| Weidemann W, Reinhardt A, Thate A, Horstkorte R.
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| Neuromuscul Disord 21(12):824-31. doi: 10.1016/j.nmd.2011.06.004. Epub 2011 Aug 27.
2011
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| 5 | GNE, IBM2
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| Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
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| Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ.
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| Clin Neuropathol 29(2):71-7.
2010
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| 6 | IBM2, SIAFT
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| Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
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| Kurochkina N, Yardeni T, Huizing M.
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| Glycobiology 20(3):322-37. doi: 10.1093/glycob/cwp176. Epub 2009 Nov 16.
2010
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| 7 | GNE, IBM2
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| Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events.
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| Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, Ben-Bassat H, Mitrani-Rosenbaum S.
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| Cell Death Differ 14(11):1916-24. Epub 2007 Aug 3. 2007
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| 8 | GNE, IBM2
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| Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
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| Penner J, Mantey LR, Elgavish S, Ghaderi D, Cirak S, Berger M, Krause S, Lucka L, Voit T, Mitrani-Rosenbaum S, Hinderlich S.
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| Biochemistry 45(9):2968-77. 2006
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| 9 | GNE, IBM2
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| Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.
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| Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F.
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| Neuromuscul Disord 15(5):361-3. 2005
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| 10 | GNE, IBM2
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| Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
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| Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC.
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| Mol Genet Metab 81(3):196-202. 2004
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| 11 | GNE, IBM2
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| Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
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| Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP.
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| Muscle Nerve 28(1):113-7. 2003
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| 12 | DMRV, GNE, IBM2
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| Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
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| Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H.
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| Neurology 59(3):451-4. 2002
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| 13 | CCIN, CLTA, CREB3, GNE, IBM2, MELK, PAX5, RECK
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| Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.
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| Eisenberg I, Hochner H, Shemesh M, Levi T, Potikha T, Sadeh M, Argov Z, Jackson CL, Mitrani-Rosenbaum S.
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| Eur J Hum Genet 9(7):501-9. 2001
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| 14 | GNE, IBM2
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| Clinical Delineation and Localization to Chromosome 9p13.3-p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia.
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| Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE.
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| Mol Genet Metab 74(4):458-75. 2001
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| 15 | GNE, IBM2
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| The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
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| Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S.
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| Nat Genet 29(1):83-7. 2001
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| 16 | IBM2
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| Fine-structure mapping of the hereditary inclusion body myopathy locus.
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| Eisenberg I, et al.
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| Genomics 55 : 43-48. 1999
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| 17 | IBM2
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| Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1.
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| Argov Z, et al.
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| Ann Neurol 41 : 548-551. 1997
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| 18 | AMCD1, IBM2, MHS1, PYGM
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| The preliminary transcript map of a human skeletal muscle.
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| Pallavicini A, Zimbello R, Tiso N, Muraro T, Rampoldi L, Bortoluzzi S, Valle G, Lanfranchi G, Danieli GA.
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| Hum Mol Genet 6(9):1445-50. 1997
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| 19 | IBM2
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| Hereditary inclusion body myopathy maps to chromosome 9p1-q1.
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| Mitrani-Rosenbaum S, et al.
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| Hum Mol Genet 5 : 159-163. 1996
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| 20 | IBM2
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| Is hereditary inclusion body myopathy a familial prion disease ?
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| Cervenakova L, et al.
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| Ann Neurol 40 : 128. 1996
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