208 related articles for article (PubMed ID: 16049925)
1. Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
Rantamäki MT; Soini HK; Finnilä SM; Majamaa K; Udd B
Ann Neurol; 2005 Aug; 58(2):337-40. PubMed ID: 16049925
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
López-Gallardo E; Solano A; Herrero-Martín MD; Martínez-Romero I; Castaño-Pérez MD; Andreu AL; Herrera A; López-Pérez MJ; Ruiz-Pesini E; Montoya J
J Med Genet; 2009 Jan; 46(1):64-7. PubMed ID: 19124644
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. Unusual findings in Leigh syndrome caused by T8993C mutation.
Yiş U; Seneca S; Dirik E; Kurul SH; Ozer E; Cakmakçi H; De Meirleir L
Eur J Paediatr Neurol; 2009 Nov; 13(6):550-2. PubMed ID: 19046652
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [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]
9. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
Pastores GM; Santorelli FM; Shanske S; Gelb BD; Fyfe B; Wolfe D; Willner JP
Am J Med Genet; 1994 Apr; 50(3):265-71. PubMed ID: 8042671
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.
Pineda M; Solano A; Artuch R; Andreu AL; Playan A; Vilaseca MA; Colomer J; Briones P; Casademont J; Montoya J
Pediatr Res; 2004 Jul; 56(1):55-9. PubMed ID: 15128915
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [NARP (neurogenic muscle weakness, ataxia and retinitis pigmentosa)].
Goto Y
Ryoikibetsu Shokogun Shirizu; 2001; (36):164-5. PubMed ID: 11596355
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
Craig K; Elliott HR; Keers SM; Lambert C; Pyle A; Graves TD; Woodward C; Sweeney MG; Davis MB; Hanna MG; Chinnery PF
J Med Genet; 2007 Dec; 44(12):797-9. PubMed ID: 18055910
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.
Sikorska M; Sandhu JK; Simon DK; Pathiraja V; Sodja C; Li Y; Ribecco-Lutkiewicz M; Lanthier P; Borowy-Borowski H; Upton A; Raha S; Pulst SM; Tarnopolsky MA
Muscle Nerve; 2009 Sep; 40(3):381-94. PubMed ID: 19626676
[TBL] [Abstract][Full Text] [Related]
20. Diagnostic challenges of mitochondrial DNA disorders.
Wong LJ
Mitochondrion; 2007; 7(1-2):45-52. PubMed ID: 17276740
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]