705 related articles for article (PubMed ID: 14720311)
1. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
Hirano M; Nishigaki Y; Martí R
Neurologist; 2004 Jan; 10(1):8-17. PubMed ID: 14720311
[TBL] [Abstract][Full Text] [Related]
2. Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
Hirano M; Lagier-Tourenne C; Valentino ML; Martí R; Nishigaki Y
Gene; 2005 Jul; 354():152-6. PubMed ID: 15975738
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.
Giordano C; Sebastiani M; Plazzi G; Travaglini C; Sale P; Pinti M; Tancredi A; Liguori R; Montagna P; Bellan M; Valentino ML; Cossarizza A; Hirano M; d'Amati G; Carelli V
Gastroenterology; 2006 Mar; 130(3):893-901. PubMed ID: 16530527
[TBL] [Abstract][Full Text] [Related]
4. A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kintarak J; Liewluck T; Sangruchi T; Hirano M; Kulkantrakorn K; Muengtaweepongsa S
Clin Neurol Neurosurg; 2007 Sep; 109(7):613-6. PubMed ID: 17544574
[TBL] [Abstract][Full Text] [Related]
5. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.
Hirano M; Martí R; Spinazzola A; Nishino I; Nishigaki Y
Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1217-25. PubMed ID: 15571233
[TBL] [Abstract][Full Text] [Related]
6. Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Slama A; Lacroix C; Plante-Bordeneuve V; Lombès A; Conti M; Reimund JM; Auxenfants E; Crenn P; Laforêt P; Joannard A; Seguy D; Pillant H; Joly P; Haut S; Messing B; Said G; Legrand A; Guiochon-Mantel A
Mol Genet Metab; 2005 Apr; 84(4):326-31. PubMed ID: 15781193
[TBL] [Abstract][Full Text] [Related]
7. [Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].
Honzík T; Tesarová M; Hansíková H; Krijt J; Benes P; Zámecník J; Wenchich L; Zeman J
Cas Lek Cesk; 2006; 145(8):665-70. PubMed ID: 16995425
[TBL] [Abstract][Full Text] [Related]
8. Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
Kocaefe YC; Erdem S; Ozgüç M; Tan E
Eur J Hum Genet; 2003 Jan; 11(1):102-4. PubMed ID: 12529715
[TBL] [Abstract][Full Text] [Related]
9. Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.
Massa R; Tessa A; Margollicci M; Micheli V; Romigi A; Tozzi G; Terracciano C; Piemonte F; Bernardi G; Santorelli FM
Neuromuscul Disord; 2009 Dec; 19(12):837-40. PubMed ID: 19853446
[TBL] [Abstract][Full Text] [Related]
10. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.
Laforce R; Valdmanis PN; Dupré N; Rouleau GA; Turgeon AF; Savard M
Clin Neurol Neurosurg; 2009 Oct; 111(8):691-4. PubMed ID: 19523753
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Nishino I; Spinazzola A; Papadimitriou A; Hammans S; Steiner I; Hahn CD; Connolly AM; Verloes A; Guimarães J; Maillard I; Hamano H; Donati MA; Semrad CE; Russell JA; Andreu AL; Hadjigeorgiou GM; Vu TH; Tadesse S; Nygaard TG; Nonaka I; Hirano I; Bonilla E; Rowland LP; DiMauro S; Hirano M
Ann Neurol; 2000 Jun; 47(6):792-800. PubMed ID: 10852545
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.
Lara MC; Valentino ML; Torres-Torronteras J; Hirano M; Martí R
Biosci Rep; 2007 Jun; 27(1-3):151-63. PubMed ID: 17549623
[TBL] [Abstract][Full Text] [Related]
13. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
Martí R; Verschuuren JJ; Buchman A; Hirano I; Tadesse S; van Kuilenburg AB; van Gennip AH; Poorthuis BJ; Hirano M
Ann Neurol; 2005 Oct; 58(4):649-52. PubMed ID: 16178026
[TBL] [Abstract][Full Text] [Related]
14. MNGIE: from nuclear DNA to mitochondrial DNA.
Nishino I; Spinazzola A; Hirano M
Neuromuscul Disord; 2001 Jan; 11(1):7-10. PubMed ID: 11166160
[TBL] [Abstract][Full Text] [Related]
15. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.
Nishigaki Y; Martí R; Copeland WC; Hirano M
J Clin Invest; 2003 Jun; 111(12):1913-21. PubMed ID: 12813027
[TBL] [Abstract][Full Text] [Related]
16. Infusion of platelets transiently reduces nucleoside overload in MNGIE.
Lara MC; Weiss B; Illa I; Madoz P; Massuet L; Andreu AL; Valentino ML; Anikster Y; Hirano M; Martí R
Neurology; 2006 Oct; 67(8):1461-3. PubMed ID: 16971699
[TBL] [Abstract][Full Text] [Related]
17. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
Nishino I; Spinazzola A; Hirano M
Science; 1999 Jan; 283(5402):689-92. PubMed ID: 9924029
[TBL] [Abstract][Full Text] [Related]
18. Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.
Blazquez A; Martín MA; Lara MC; Martí R; Campos Y; Cabello A; Garesse R; Bautista J; Andreu AL; Arenas J
Neuromuscul Disord; 2005 Nov; 15(11):775-8. PubMed ID: 16198108
[TBL] [Abstract][Full Text] [Related]
19. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
Van Goethem G; Schwartz M; Löfgren A; Dermaut B; Van Broeckhoven C; Vissing J
Eur J Hum Genet; 2003 Jul; 11(7):547-9. PubMed ID: 12825077
[TBL] [Abstract][Full Text] [Related]
20. Diseases caused by nuclear genes affecting mtDNA stability.
Suomalainen A; Kaukonen J
Am J Med Genet; 2001; 106(1):53-61. PubMed ID: 11579425
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
