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Items: 1 to 20 of 147

1.

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.

Naess K, Freyer C, Bruhn H, Wibom R, Malm G, Nennesmo I, von Döbeln U, Larsson NG.

Biochim Biophys Acta. 2009 May;1787(5):484-90. doi: 10.1016/j.bbabio.2008.11.014. Epub 2008 Dec 6.

2.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.

J Med Genet. 2007 Apr;44(4):e74.

3.

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.

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

J Inherit Metab Dis. 2007 Apr;30(2):265. Epub 2007 Feb 24.

PMID:
17323145
4.

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR.

Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2.

5.

Genetic and biochemical findings in Chinese children with Leigh syndrome.

Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Li XY, Shi XY, Zhang WN, Zhao M, Hu LY, Yang YL, Zou LP.

J Clin Neurosci. 2013 Nov;20(11):1591-4. doi: 10.1016/j.jocn.2013.03.034. Epub 2013 Aug 13.

PMID:
23953430
6.

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
7.

SURF1-associated Leigh syndrome: a case series and novel mutations.

Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ.

Hum Mutat. 2012 Aug;33(8):1192-200. doi: 10.1002/humu.22095. Epub 2012 Apr 30.

PMID:
22488715
8.

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Marin SE, Mesterman R, Robinson B, Rodenburg RJ, Smeitink J, Tarnopolsky MA.

Gene. 2013 Mar 1;516(1):162-7. doi: 10.1016/j.gene.2012.12.024. Epub 2012 Dec 22.

PMID:
23266820
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.

PMID:
10721666
10.

Ophthalmological manifestations in patients with Leigh syndrome.

Han J, Lee YM, Kim SM, Han SY, Lee JB, Han SH.

Br J Ophthalmol. 2015 Apr;99(4):528-35. doi: 10.1136/bjophthalmol-2014-305704. Epub 2014 Oct 28.

PMID:
25351680
11.

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J.

Pediatr Res. 2006 Jan;59(1):21-6. Epub 2005 Dec 2.

PMID:
16326995
12.

Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.

Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL.

Mitochondrial DNA. 2013 Feb;24(1):67-73. doi: 10.3109/19401736.2012.717932. Epub 2012 Sep 5.

PMID:
22947169
13.

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Sudo A, Honzawa S, Nonaka I, Goto Y.

J Hum Genet. 2004;49(2):92-6. Epub 2004 Jan 17.

PMID:
14730434
14.

Metabolic rescue in pluripotent cells from patients with mtDNA disease.

Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, Wolf DP, Huang T, Terzic A, Laurent LC, Izpisua Belmonte JC, Mitalipov S.

Nature. 2015 Aug 13;524(7564):234-8. doi: 10.1038/nature14546. Epub 2015 Jul 15.

PMID:
26176921
15.

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y.

Hum Genet. 1999 Dec;105(6):560-3.

PMID:
10647889
16.

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].

Pronicka E, Piekutowska-Abramczuk D, Pronicki M.

Postepy Biochem. 2008;54(2):161-8. Review. Polish.

PMID:
18807927
17.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.

J Med Genet. 2003 Mar;40(3):188-91.

18.

Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.

Sonam K, Khan NA, Bindu PS, Taly AB, Gayathri N, Bharath MM, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K.

Brain Dev. 2014 Oct;36(9):807-12. doi: 10.1016/j.braindev.2013.10.012. Epub 2013 Nov 18.

PMID:
24262866
19.

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
20.

Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing.

Da-Rè C, von Stockum S, Biscontin A, Millino C, Cisotto P, Zordan MA, Zeviani M, Bernardi P, De Pittà C, Costa R.

J Biol Chem. 2014 Oct 17;289(42):29235-46. doi: 10.1074/jbc.M114.602938. Epub 2014 Aug 27.

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