147 related articles for article (PubMed ID: 1436530)
1. 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]
2. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
Uziel G; Moroni I; Lamantea E; Fratta GM; Ciceri E; Carrara F; Zeviani M
J Neurol Neurosurg Psychiatry; 1997 Jul; 63(1):16-22. PubMed ID: 9221962
[TBL] [Abstract][Full Text] [Related]
3. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
de Vries DD; van Engelen BG; Gabreëls FJ; Ruitenbeek W; van Oost BA
Ann Neurol; 1993 Sep; 34(3):410-2. PubMed ID: 8395787
[TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular studies in three Portuguese mtDNA T8993G families.
Vilarinho L; Leão E; Barbot C; Santos M; Rocha H; Santorelli FM
Pediatr Neurol; 2000 Jan; 22(1):29-32. PubMed ID: 10669202
[TBL] [Abstract][Full Text] [Related]
5. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
Santorelli FM; Shanske S; Macaya A; DeVivo DC; DiMauro S
Ann Neurol; 1993 Dec; 34(6):827-34. PubMed ID: 8250532
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.
Chalmers RM; Lamont PJ; Nelson I; Ellison DW; Thomas NH; Harding AE; Hammans SR
Neurology; 1997 Aug; 49(2):589-92. PubMed ID: 9270602
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
Carrozzo R; Rizza T; Stringaro A; Pierini R; Mormone E; Santorelli FM; Malorni W; Matarrese P
J Neurochem; 2004 Jul; 90(2):490-501. PubMed ID: 15228605
[TBL] [Abstract][Full Text] [Related]
14. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
Rojo A; Campos Y; Sánchez JM; Bonaventura I; Aguilar M; García A; González L; Rey MJ; Arenas J; Olivé M; Ferrer I
Acta Neuropathol; 2006 Jun; 111(6):610-6. PubMed ID: 16525806
[TBL] [Abstract][Full Text] [Related]
15. Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
Rubio-Gozalbo ME; Dijkman KP; van den Heuvel LP; Sengers RC; Wendel U; Smeitink JA
Hum Mutat; 2000; 15(6):522-32. PubMed ID: 10862082
[TBL] [Abstract][Full Text] [Related]
16. Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.
Tiranti V; Munaro M; Sandonà D; Lamantea E; Rimoldi M; DiDonato S; Bisson R; Zeviani M
Hum Mol Genet; 1995 Nov; 4(11):2017-23. PubMed ID: 8589677
[TBL] [Abstract][Full Text] [Related]
17. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.
Fryer A; Appleton R; Sweeney MG; Rosenbloom L; Harding AE
Arch Dis Child; 1994 Nov; 71(5):419-22. PubMed ID: 7529982
[TBL] [Abstract][Full Text] [Related]
18. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
McFarland R; Kirby DM; Fowler KJ; Ohtake A; Ryan MT; Amor DJ; Fletcher JM; Dixon JW; Collins FA; Turnbull DM; Taylor RW; Thorburn DR
Ann Neurol; 2004 Jan; 55(1):58-64. PubMed ID: 14705112
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Molecular analysis of oxidative phosphorylation diseases for detection of mitochondrial DNA mutations.
Shoffner JM
Curr Protoc Hum Genet; 2001 May; Chapter 9():Unit 9.9. PubMed ID: 18428320
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]