PubMed (OMIM) for id: 4565

Year	Number of Results
1980	1
1985	1
1988	1
1990	2
1991	3
1992	2
1993	2
1995	1
1996	1
1998	1
2002	1
2003	2
2004	5
2009	1
2012	1
2024	0

1

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.

Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C. Gutiérrez Cortés N, et al. Hum Mutat. 2012 Apr;33(4):681-9. doi: 10.1002/humu.22023. Epub 2012 Feb 14. Hum Mutat. 2012. PMID: 22241583

2

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. Blakely EL, et al. Arch Neurol. 2009 Mar;66(3):399-402. doi: 10.1001/archneurol.2008.576. Arch Neurol. 2009. PMID: 19273760

3

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP. Wilson FH, et al. Science. 2004 Nov 12;306(5699):1190-4. doi: 10.1126/science.1102521. Epub 2004 Oct 21. Science. 2004. PMID: 15498972 Free PMC article.

4

Mitochondrial tRNA 3' end metabolism and human disease.

Levinger L, Mörl M, Florentz C. Levinger L, et al. Nucleic Acids Res. 2004 Oct 11;32(18):5430-41. doi: 10.1093/nar/gkh884. Print 2004. Nucleic Acids Res. 2004. PMID: 15477393 Free PMC article. Review.

5

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G. Mancuso M, et al. Neurology. 2004 Jun 8;62(11):2119-21. doi: 10.1212/01.wnl.0000127608.48406.f1. Neurology. 2004. PMID: 15184630

6

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.

Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H, Zeviani M. Limongelli A, et al. J Med Genet. 2004 May;41(5):342-9. doi: 10.1136/jmg.2003.016048. J Med Genet. 2004. PMID: 15121771 Free PMC article.

7

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R. Melone MA, et al. Arch Neurol. 2004 Feb;61(2):269-72. doi: 10.1001/archneur.61.2.269. Arch Neurol. 2004. PMID: 14967777

8

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. Taylor RW, et al. J Am Coll Cardiol. 2003 May 21;41(10):1786-96. doi: 10.1016/s0735-1097(03)00300-0. J Am Coll Cardiol. 2003. PMID: 12767666 Free article.

9

Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation.

Tomari Y, Hino N, Nagaike T, Suzuki T, Ueda T. Tomari Y, et al. J Biol Chem. 2003 May 9;278(19):16828-33. doi: 10.1074/jbc.M213216200. Epub 2003 Mar 5. J Biol Chem. 2003. PMID: 12621050 Free article.

10

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.

Corona P, Lamantea E, Greco M, Carrara F, Agostino A, Guidetti D, Dotti MT, Mariotti C, Zeviani M. Corona P, et al. Ann Neurol. 2002 Jan;51(1):118-22. doi: 10.1002/ana.10059. Ann Neurol. 2002. PMID: 11782991

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