PubMed for id: 462826

Year	Number of Results
1987	1
1996	1
1999	1
2000	1
2001	1
2003	2
2005	1
2006	2
2007	2
2008	3
2009	3
2010	5
2011	5
2012	6
2013	7
2014	5
2015	6
2016	5
2017	6
2018	8
2019	4
2020	3
2021	2
2022	2
2023	0

1

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG. Randolph LM, et al. Mol Genet Metab. 2011 Feb;102(2):149-52. doi: 10.1016/j.ymgme.2010.10.014. Epub 2010 Oct 30. Mol Genet Metab. 2011. PMID: 21093335

2

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F. Ostergaard E, et al. Am J Hum Genet. 2007 Aug;81(2):383-7. doi: 10.1086/519222. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668387 Free PMC article.

3

Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.

Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZM, White CB, Shield JP, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Blakely EL, et al. Pediatr Res. 2006 Mar;59(3):440-4. doi: 10.1203/01.pdr.0000198771.78290.c4. Pediatr Res. 2006. PMID: 16492986

4

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.

Procaccio V, Mousson B, Beugnot R, Duborjal H, Feillet F, Putet G, Pignot-Paintrand I, Lombès A, De Coo R, Smeets H, Lunardi J, Issartel JP. Procaccio V, et al. J Clin Invest. 1999 Jul;104(1):83-92. doi: 10.1172/JCI6184. J Clin Invest. 1999. PMID: 10393702 Free PMC article.

5

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.

Hoppel CL, Kerr DS, Dahms B, Roessmann U. Hoppel CL, et al. J Clin Invest. 1987 Jul;80(1):71-7. doi: 10.1172/JCI113066. J Clin Invest. 1987. PMID: 3110216 Free PMC article.

6

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. Piekutowska-Abramczuk D, et al. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429571 Free PMC article.

7

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.

Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.

8

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW. Oláhová M, et al. Eur J Hum Genet. 2015 Jul;23(7):935-9. doi: 10.1038/ejhg.2014.214. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293719 Free PMC article.

9

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

Ostergaard E, Schwartz M, Batbayli M, Christensen E, Hjalmarson O, Kollberg G, Holme E. Ostergaard E, et al. Eur J Pediatr. 2010 Feb;169(2):201-5. doi: 10.1007/s00431-009-1007-z. Epub 2009 Jun 14. Eur J Pediatr. 2010. PMID: 19526370

10

Cytochrome c oxidase deficiency.

Shoubridge EA. Shoubridge EA. Am J Med Genet. 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378. Am J Med Genet. 2001. PMID: 11579424 Review.

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