| 1 | TYMP, MNGIE
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| A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
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| Gamez J, Lara MC, Mearin F, Oliveras-Ley C, Raguer N, Olive M, Leist AT, Perello A, Perona M, Cervera C, Andreu AL, Marti R, Hirano M.
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| J Neurol Sci 228(1):35-9. Epub 2004 Nov 12. 2005
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| 2 | TYMP, MNGIE
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| Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
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| Slama A, Lacroix C, Plante-Bordeneuve V, Lombes A, Conti M, Reimund JM, Auxenfants E, Crenn P, Laforet P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel A.
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| Mol Genet Metab 84(4):326-31. Epub 2005 Jan 24. 2005
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| 3 | MT-ND5, MNGIE
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| ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
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| Nishigaki Y, Marti R, Hirano M.
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| Hum Mol Genet 13(1):91-101. Epub 2003 Nov 12. 2004
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| 4 | MNGIE, TYMP
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| MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
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| Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F.
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| J Med Genet 41(2):125-9. 2004
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| 5 | MNGIE, MT-TW
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| A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
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| Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA.
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| Eur J Hum Genet 12(6):509-12. 2004
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| 6 | MNGIE
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| MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy.
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| Bedlack RS, Vu T, Hammans S, Sparr SA, Myers B, Morgenlander J, Hirano M.
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| Muscle Nerve 29(3):364-8. 2004
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| 7 | TYMP, MNGIE
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| Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
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| Kocaefe YC, Erdem S, Ozguc M, Tan E.
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| Eur J Hum Genet 11(1):102-4. 2003
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| 8 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 9 | MNGIE, TYMP
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| Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
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| Nishino I, Spinazzola A, Hirano M.
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| Science 283(5402):689-92. 1999
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| 10 | MNGIE
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| Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy.
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| Nishizuka S, et al.
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| Biochem Biophys Res Commun 247 : 24-27. 1998
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| 11 | MNGIE
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| Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
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| Hirano M, Garcia-de-Yebenes J, Jones AC, Nishino I, DiMauro S, Carlo JR, Bender AN, Hahn AF, Salberg LM, Weeks DE, Nygaard TG.
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| Am J Hum Genet 63 : 526-533. 1998
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| 12 | MNGIE
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| A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy.
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| Verma A, Piccoli DA, Bonilla E, Berry GT, DiMauro S, Moraes CT.
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| Pediatr Res 42(4):448-54. 1997
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| 13 | MNGIE
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| Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA : a mitochondrial multisystem disorder in search of a name.
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| Uncini A, et al.
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| Muscle Nerve 17 : 667-674. 1994
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| 14 | MNGIE
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| Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) : clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
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| Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al.
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| Neurology 44 : 721-727. 1994
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| 15 | MNGIE
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| Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-C-oxidase. A new mitochondrial multisystem disorder.
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| Bardosi A, et al.
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| Acta Neuropathol 74 : 248-258. 1987
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