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Items: 1 to 20 of 100

1.

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM.

Neurology. 2004 Apr 27;62(8):1420-3.

PMID:
15111688
2.

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M.

Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28.

3.

A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

Crimi M, Galbiati S, Perini MP, Bordoni A, Malferrari G, Sciacco M, Biunno I, Strazzer S, Moggio M, Bresolin N, Comi GP.

Neurology. 2003 Apr 8;60(7):1200-3.

PMID:
12682337
4.

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.

Arch Neurol. 2004 Feb;61(2):269-72.

PMID:
14967777
5.

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

Sakuta R, Honzawa S, Murakami N, Goto Y, Nagai T.

Pediatr Neurol. 2002 Nov;27(5):397-400.

PMID:
12504210
6.

A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy.

Moslemi AR, Lindberg C, Toft J, Holme E, Kollberg G, Oldfors A.

Neuromuscul Disord. 2004 Jan;14(1):46-50.

PMID:
14659412
7.

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.

Sakiyama Y, Okamoto Y, Higuchi I, Inamori Y, Sangatsuda Y, Michizono K, Watanabe O, Hatakeyama H, Goto Y, Arimura K, Takashima H.

Acta Neuropathol. 2011 Jun;121(6):775-83. doi: 10.1007/s00401-011-0818-y. Epub 2011 Mar 22.

8.

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Barić I, Fumić K, Petković Ramadža D, Sperl W, Zimmermann FA, Muačević-Katanec D, Mitrović Z, Pažanin L, Cvitanović Šojat L, Kekez T, Reiner Z, Mayr JA.

Eur J Hum Genet. 2013 Aug;21(8):871-5. doi: 10.1038/ejhg.2012.272. Epub 2012 Dec 12.

10.

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.

Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP.

J Neurol Sci. 2009 Jun 15;281(1-2):85-92. doi: 10.1016/j.jns.2009.01.025. Epub 2009 Mar 10. Review.

PMID:
19278689
11.

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.

J Med Genet. 2004 May;41(5):342-9.

12.

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM.

Neuromuscul Disord. 2002 Oct;12(7-8):659-664.

PMID:
12207935
13.

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.

Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM.

Biochem Biophys Res Commun. 1998 Feb 4;243(1):47-51.

PMID:
9473477
14.

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL.

Am J Med Genet A. 2005 Aug 30;137(2):170-5.

PMID:
16059939
15.

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.

McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM.

Neuromuscul Disord. 2004 Feb;14(2):162-6.

PMID:
14733964
16.

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.

J Med Genet. 2006 Sep;43(9):e46.

17.

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L.

Eur J Hum Genet. 2010 Mar;18(3):324-9. doi: 10.1038/ejhg.2009.169. Epub 2009 Oct 7.

18.

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function.

Fayet G, Jansson M, Sternberg D, Moslemi AR, Blondy P, Lombès A, Fardeau M, Oldfors A.

Neuromuscul Disord. 2002 Jun;12(5):484-93.

PMID:
12031622
19.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.

Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9.

20.

A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop.

Dey R, Tengan CH, Morita MP, Kiyomoto BH, Moraes CT.

Neuromuscul Disord. 2000 Oct;10(7):488-92.

PMID:
10996779

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