PubMed (OMIM) for id: 4575

Year	Number of Results
1984	1
1988	2
1990	2
1991	4
1992	5
1993	2
1995	1
1998	1
1999	2
2001	2
2004	2
2006	3
2008	1
2009	1
2010	2
2012	1
2013	1
2015	1
2024	0

1

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. Ma H, et al. Nature. 2015 Aug 13;524(7564):234-8. doi: 10.1038/nature14546. Epub 2015 Jul 15. Nature. 2015. PMID: 26176921

2

High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.

Malfatti E, Laforêt P, Jardel C, Stojkovic T, Behin A, Eymard B, Lombès A, Benmalek A, Bécane HM, Berber N, Meune C, Duboc D, Wahbi K. Malfatti E, et al. Neurology. 2013 Jan 1;80(1):100-5. doi: 10.1212/WNL.0b013e31827b1a2f. Epub 2012 Dec 12. Neurology. 2013. PMID: 23243073

3

Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

Parsons T, Weimer L, Engelstad K, Linker A, Battista V, Wei Y, Hirano M, Dimauro S, De Vivo DC, Kaufmann P. Parsons T, et al. Arch Neurol. 2010 Aug;67(8):976-9. doi: 10.1001/archneurol.2010.174. Arch Neurol. 2010. PMID: 20697048 Free PMC article.

4

Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

Testai FD, Gorelick PB. Testai FD, et al. Arch Neurol. 2010 Jan;67(1):19-24. doi: 10.1001/archneurol.2009.309. Arch Neurol. 2010. PMID: 20065125 Review.

5

Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation.

Costello DJ, Sims KB. Costello DJ, et al. Neurology. 2009 Apr 7;72(14):1279-80. doi: 10.1212/01.wnl.0000345663.71421.1d. Neurology. 2009. PMID: 19349610 No abstract available.

6

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

7

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

Wong LJ, Yim D, Bai RK, Kwon H, Vacek MM, Zane J, Hoppel CL, Kerr DS. Wong LJ, et al. J Med Genet. 2006 Sep;43(9):e46. doi: 10.1136/jmg.2005.040626. J Med Genet. 2006. PMID: 16950817 Free PMC article.

8

Late-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with bitemporal lesions.

Kisanuki YY, Gruis KL, Smith TL, Brown DL. Kisanuki YY, et al. Arch Neurol. 2006 Aug;63(8):1200-1. doi: 10.1001/archneur.63.8.1200. Arch Neurol. 2006. PMID: 16908753 No abstract available.

9

Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.

Kaufmann P, Pascual JM, Anziska Y, Gooch CL, Engelstad K, Jhung S, DiMauro S, De Vivo DC. Kaufmann P, et al. Arch Neurol. 2006 May;63(5):746-8. doi: 10.1001/archneur.63.5.746. Arch Neurol. 2006. PMID: 16682545

10

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Kirby DM, et al. J Med Genet. 2004 Oct;41(10):784-9. doi: 10.1136/jmg.2004.020537. J Med Genet. 2004. PMID: 15466014 Free PMC article. No abstract available.

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