177 related articles for article (PubMed ID: 1539598)
1. Prenatal diagnosis of mitochondrial DNA8993 T----G disease.
Harding AE; Holt IJ; Sweeney MG; Brockington M; Davis MB
Am J Hum Genet; 1992 Mar; 50(3):629-33. PubMed ID: 1539598
[TBL] [Abstract][Full Text] [Related]
2. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.
White SL; Shanske S; Biros I; Warwick L; Dahl HM; Thorburn DR; Di Mauro S
Prenat Diagn; 1999 Dec; 19(12):1165-8. PubMed ID: 10590437
[TBL] [Abstract][Full Text] [Related]
3. Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
Steffann J; Gigarel N; Corcos J; Bonnière M; Encha-Razavi F; Sinico M; Prevot S; Dumez Y; Yamgnane A; Frydman R; Munnich A; Bonnefont JP
J Med Genet; 2007 Oct; 44(10):664-9. PubMed ID: 17545557
[TBL] [Abstract][Full Text] [Related]
4. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].
Tesarová M; Hansíková H; Hlavatá A; Klement P; Houst'ková H; Houstĕk J; Zeman J
Cas Lek Cesk; 2002 Aug; 141(17):551-4. PubMed ID: 12404959
[TBL] [Abstract][Full Text] [Related]
5. [Prenatal diagnosis for neuromuscular diseases].
Saito K
No To Shinkei; 2004 Dec; 56(12):1008-15. PubMed ID: 15729877
[No Abstract] [Full Text] [Related]
6. Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.
Puddu P; Barboni P; Mantovani V; Montagna P; Cerullo A; Bragliani M; Molinotti C; Caramazza R
Br J Ophthalmol; 1993 Feb; 77(2):84-8. PubMed ID: 8435424
[TBL] [Abstract][Full Text] [Related]
7. Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.
Porto FB; Mack G; Sterboul MJ; Lewin P; Flament J; Sahel J; Dollfus H
Am J Ophthalmol; 2001 Dec; 132(6):935-7. PubMed ID: 11730668
[TBL] [Abstract][Full Text] [Related]
8. Diagnostic challenges of mitochondrial DNA disorders.
Wong LJ
Mitochondrion; 2007; 7(1-2):45-52. PubMed ID: 17276740
[TBL] [Abstract][Full Text] [Related]
9. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
Tsao CY; Mendell JR; Bartholomew D
J Child Neurol; 2001 Jul; 16(7):533-5. PubMed ID: 11453454
[TBL] [Abstract][Full Text] [Related]
10. Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases.
Poulton J; Marchington DR
Neuromuscul Disord; 2000 Oct; 10(7):484-7. PubMed ID: 10996778
[TBL] [Abstract][Full Text] [Related]
11. [A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].
Miyawaki T; Koto S; Ishihara H; Goto Y; Nishino I; Kanda F; Toda T
Rinsho Shinkeigaku; 2015; 55(2):91-5. PubMed ID: 25746071
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G.
Pettman R; Hurley T; Addis J; Robinson B; Scott H; Kronick JB
J Inherit Metab Dis; 2007 Jun; 30(3):404. PubMed ID: 17508265
[TBL] [Abstract][Full Text] [Related]
13. Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications.
Poulton J; Marchington DR
Reproduction; 2002 Jun; 123(6):751-5. PubMed ID: 12052229
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
Leshinsky-Silver E; Perach M; Basilevsky E; Hershkovitz E; Yanoov-Sharav M; Lerman-Sagie T; Lev D
Prenat Diagn; 2003 Jan; 23(1):31-3. PubMed ID: 12533809
[TBL] [Abstract][Full Text] [Related]
16. [A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA].
Mitani M; Jinnai K; Takahashi K; Koide R; Tsuji S
Rinsho Shinkeigaku; 2000 Jun; 40(6):600-4. PubMed ID: 11086401
[TBL] [Abstract][Full Text] [Related]
17. Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome.
Mäkelä-Bengs P; Suomalainen A; Majander A; Rapola J; Kalimo H; Nuutila A; Pihko H
Pediatr Res; 1995 May; 37(5):634-9. PubMed ID: 7603783
[TBL] [Abstract][Full Text] [Related]
18. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
Santorelli FM; Tanji K; Shanske S; DiMauro S
Neurology; 1997 Jul; 49(1):270-3. PubMed ID: 9222207
[TBL] [Abstract][Full Text] [Related]
19. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
Enns GM; Bai RK; Beck AE; Wong LJ
Mol Genet Metab; 2006 Aug; 88(4):364-71. PubMed ID: 16546428
[TBL] [Abstract][Full Text] [Related]
20. The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
Parfait B; de Lonlay P; von Kleist-Retzow JC; Cormier-Daire V; Chrétien D; Rötig A; Rabier D; Saudubray JM; Rustin P; Munnich A
Eur J Pediatr; 1999 Jan; 158(1):55-8. PubMed ID: 9950309
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
