209 related articles for article (PubMed ID: 17612528)
1. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Valentino ML; Martí R; Tadesse S; López LC; Manes JL; Lyzak J; Hahn A; Carelli V; Hirano M
FEBS Lett; 2007 Jul; 581(18):3410-4. PubMed ID: 17612528
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M; Carelli V; De Giorgio R; Pironi L; Accarino A; Cenacchi G; D'Alessandro R; Filosto M; Martí R; Nonino F; Pinna AD; Baldin E; Bax BE; Bolletta A; Bolletta R; Boschetti E; Cescon M; D'Angelo R; Dotti MT; Giordano C; Gramegna LL; Levene M; Lodi R; Mandel H; Morelli MC; Musumeci O; Pugliese A; Scarpelli M; Siniscalchi A; Spinazzola A; Tal G; Torres-Torronteras J; Vignatelli L; Zaidman I; Zoller H; Rinaldi R; Zeviani M
J Inherit Metab Dis; 2021 Mar; 44(2):376-387. PubMed ID: 32898308
[TBL] [Abstract][Full Text] [Related]
3. Discovery profiling and bioinformatics analysis of serum microRNA in Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE).
Levene M; Enguita FJ; Bax BE
Nucleosides Nucleotides Nucleic Acids; 2018; 37(11):618-629. PubMed ID: 30587073
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE.
Du J; Liu F; Liu X; Zhao D; Wang D; Sun H; Yan C; Zhao Y
J Transl Med; 2024 May; 22(1):449. PubMed ID: 38741129
[TBL] [Abstract][Full Text] [Related]
9. Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kumagai Y; Sugiura Y; Sugeno H; Takebayashi Y; Takenoshita S; Yamamoto T
Intern Med; 2006; 45(7):443-6. PubMed ID: 16679698
[TBL] [Abstract][Full Text] [Related]
10. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
Martí R; Spinazzola A; Tadesse S; Nishino I; Nishigaki Y; Hirano M
Clin Chem; 2004 Jan; 50(1):120-4. PubMed ID: 14633909
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
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. 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]
15. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kripps K; Nakayuenyongsuk W; Shayota BJ; Berquist W; Gomez-Ospina N; Esquivel CO; Concepcion W; Sampson JB; Cristin DJ; Jackson WE; Gilliland S; Pomfret EA; Kueht ML; Pettit RW; Sherif YA; Emrick LT; Elsea SH; Himes R; Hirano M; Van Hove JLK; Scaglia F; Enns GM; Larson AA
Mol Genet Metab; 2020 May; 130(1):58-64. PubMed ID: 32173240
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [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]
18. Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.
Boschetti E; D'Alessandro R; Bianco F; Carelli V; Cenacchi G; Pinna AD; Del Gaudio M; Rinaldi R; Stanghellini V; Pironi L; Rhoden K; Tugnoli V; Casali C; De Giorgio R
PLoS One; 2014; 9(5):e96692. PubMed ID: 24802030
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
