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Items: 1 to 20 of 240

1.

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.

Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA.

Am J Med Genet A. 2007 Sep 1;143A(17):2046-51. Review.

PMID:
17663470
2.

[Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)].

Playán A, Solano-Palacios A, González de la Rosa JB, Merino-Arribas JM, Andreu AL, López-Pérez M, Montoya J.

Rev Neurol. 2002 Jun 16-30;34(12):1124-6. Spanish.

3.

Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.

Fujii T, Hattori H, Higuchi Y, Tsuji M, Mitsuyoshi I.

Pediatr Neurol. 1998 Mar;18(3):275-7.

PMID:
9568930
4.

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.

PMID:
12533809
5.

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. doi: 10.1016/j.ejpn.2008.10.009. Epub 2008 Nov 30.

PMID:
19046652
6.

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. Epub 2006 Mar 20.

PMID:
16546428
7.

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 15;50(3):265-71. Review.

PMID:
8042671
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 30;141(17):551-4. Czech.

PMID:
12404959
9.

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.

PMID:
8726250
10.

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. Epub 2006 Mar 9.

PMID:
16525806
11.

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.

Sobreira C, Marques W Jr, Pontes Neto OM, Santos AC, Pina Neto JM, Barreira AA.

J Neurol Sci. 2009 Mar 15;278(1-2):132-4. doi: 10.1016/j.jns.2008.11.023. Epub 2009 Jan 14.

PMID:
19144360
12.

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.

PMID:
8250532
13.

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.

PMID:
8750605
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.

PMID:
10590437
15.

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.

Suzuki Y, Wada T, Sakai T, Ishikawa Y, Minami R, Tachi N, Saitoh S.

Pediatr Neurol. 1998 Oct;19(4):283-6.

PMID:
9830999
16.

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

Yang YL, Sun F, Zhang Y, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Qi ZY, Zhang YH, Jiang YW, Bao XH, Qin J, Wu XR.

Chin Med J (Engl). 2006 Mar 5;119(5):373-7.

PMID:
16542579
17.

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ.

Neuropediatrics. 2007 Dec;38(6):313-6. doi: 10.1055/s-2008-1065355.

PMID:
18461509
18.

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J.

Am J Med Genet A. 2006 Apr 15;140(8):863-8.

PMID:
16532470
19.

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH.

Am J Med Genet A. 2007 Apr 15;143A(8):808-16.

PMID:
17352390
20.

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.

PMID:
9270602

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