121 related articles for article (PubMed ID: 11916326)
1. Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.
Vilarinho L; Barbot C; Carrozzo R; Calado E; Tessa A; Dionisi-Vici C; Guimarães A; Santorelli FM
J Inherit Metab Dis; 2001 Dec; 24(8):883-4. PubMed ID: 11916326
[No Abstract] [Full Text] [Related]
2. A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
Carrozzo R; Murray J; Capuano O; Tessa A; Chichierchia G; Neglia MR; Capaldi RA; Santorelli FM
Neurol Sci; 2000; 21(5 Suppl):S983-4. PubMed ID: 11382202
[TBL] [Abstract][Full Text] [Related]
3. MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise.
Robinson BH
J Bioenerg Biomembr; 1994 Jun; 26(3):311-6. PubMed ID: 8077184
[TBL] [Abstract][Full Text] [Related]
4. The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.
Tatuch Y; Pagon RA; Vlcek B; Roberts R; Korson M; Robinson BH
Eur J Hum Genet; 1994; 2(1):35-43. PubMed ID: 8044652
[TBL] [Abstract][Full Text] [Related]
5. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Vazquez-Memije ME; Shanske S; Santorelli FM; Kranz-Eble P; Davidson E; DeVivo DC; DiMauro S
J Inherit Metab Dis; 1996; 19(1):43-50. PubMed ID: 8830176
[TBL] [Abstract][Full Text] [Related]
6. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
Santorelli FM; Mak SC; Vazquez-Memije ME; Shanske S; Kranz-Eble P; Jain KD; Bluestone DL; De Vivo DC; DiMauro S
Pediatr Res; 1996 May; 39(5):914-7. PubMed ID: 8726250
[TBL] [Abstract][Full Text] [Related]
7. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
Dionisi-Vici C; Seneca S; Zeviani M; Fariello G; Rimoldi M; Bertini E; De Meirleir L
J Inherit Metab Dis; 1998 Feb; 21(1):2-8. PubMed ID: 9501263
[TBL] [Abstract][Full Text] [Related]
8. Maternally inherited Leigh syndrome.
Ciafaloni E; Santorelli FM; Shanske S; Deonna T; Roulet E; Janzer C; Pescia G; DiMauro S
J Pediatr; 1993 Mar; 122(3):419-22. PubMed ID: 8095070
[TBL] [Abstract][Full Text] [Related]
9. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
Campos Y; Martín MA; Rubio JC; Solana LG; García-Benayas C; Terradas JL; Arenas J
Neurology; 1997 Aug; 49(2):595-7. PubMed ID: 9270604
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
Makino M; Horai S; Goto Y; Nonaka I
J Hum Genet; 2000; 45(2):69-75. PubMed ID: 10721666
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure.
Mak SC; Chi CS; Tsai CR
J Child Neurol; 1998 Jul; 13(7):349-51. PubMed ID: 9701486
[No Abstract] [Full Text] [Related]
12. Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation.
Degoul F; Diry M; Rodriguez D; Robain O; Francois D; Ponsot G; Marsac C; Desguerre I
J Inherit Metab Dis; 1995; 18(6):682-8. PubMed ID: 8750605
[TBL] [Abstract][Full Text] [Related]
13. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
Carrozzo R; Tessa A; Vázquez-Memije ME; Piemonte F; Patrono C; Malandrini A; Dionisi-Vici C; Vilarinho L; Villanova M; Schägger H; Federico A; Bertini E; Santorelli FM
Neurology; 2001 Mar; 56(5):687-90. PubMed ID: 11245730
[TBL] [Abstract][Full Text] [Related]
14. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
Sgarbi G; Baracca A; Lenaz G; Valentino LM; Carelli V; Solaini G
Biochem J; 2006 May; 395(3):493-500. PubMed ID: 16402916
[TBL] [Abstract][Full Text] [Related]
15. A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
Santorelli FM; Shanske S; Jain KD; Tick D; Schon EA; DiMauro S
Neurology; 1994 May; 44(5):972-4. PubMed ID: 8190310
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial DNA point mutation T9176C in Leigh syndrome.
Wilson CJ; Wood NW; Leonard JV; Surtees R; Rahman S
J Child Neurol; 2000 Dec; 15(12):830-3. PubMed ID: 11198506
[TBL] [Abstract][Full Text] [Related]
17. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria.
Tatuch Y; Robinson BH
Biochem Biophys Res Commun; 1993 Apr; 192(1):124-8. PubMed ID: 8476414
[TBL] [Abstract][Full Text] [Related]
18. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
Shoffner JM; Fernhoff PM; Krawiecki NS; Caplan DB; Holt PJ; Koontz DA; Takei Y; Newman NJ; Ortiz RG; Polak M
Neurology; 1992 Nov; 42(11):2168-74. PubMed ID: 1436530
[TBL] [Abstract][Full Text] [Related]
19. Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation.
Martín MA; Campos Y; García-Silva MT; Rubio JC; Del Hoyo P; de Bustos F; García A; Arenas J
J Inherit Metab Dis; 1999 Dec; 22(8):939-40. PubMed ID: 10604149
[No Abstract] [Full Text] [Related]
20. Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.
Tóth G; Morava E; Bene J; Selhorst JJ; Overmars H; Vreken P; Molnár J; Farkas V; Melegh B
J Inherit Metab Dis; 2001 Jun; 24(3):421-2. PubMed ID: 11486914
[No Abstract] [Full Text] [Related]
[Next] [New Search]