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Items: 1 to 20 of 128

1.

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

Zsurka G, Hampel KG, Nelson I, Jardel C, Mirandola SR, Sassen R, Kornblum C, Marcorelles P, Lavoué S, Lombès A, Kunz WS.

Neurology. 2010 Feb 9;74(6):507-12. doi: 10.1212/WNL.0b013e3181cef7ab.

PMID:
20142618
2.

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.

Kleinle S, Schneider V, Moosmann P, Brandner S, Krähenbühl S, Liechti-Gallati S.

Biochem Biophys Res Commun. 1998 Jun 9;247(1):112-5.

PMID:
9636664
3.

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.

J Am Coll Cardiol. 2003 May 21;41(10):1786-96.

4.

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
5.

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A.

Brain. 2001 May;124(Pt 5):984-94.

PMID:
11335700
6.

Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.

Choo-Kang AT, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M.

Diabetes. 2002 Jul;51(7):2317-20.

7.

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.

Möllers M, Maniura-Weber K, Kiseljakovic E, Bust M, Hayrapetyan A, Jaksch M, Helm M, Wiesner RJ, von Kleist-Retzow JC.

Nucleic Acids Res. 2005 Sep 30;33(17):5647-58. Print 2005.

8.

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G.

Neurology. 2004 Jun 8;62(11):2119-21.

PMID:
15184630
9.

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ.

Am J Med Genet A. 2006 Oct 15;140(20):2216-22.

PMID:
16955414
10.

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.

Brain. 1995 Jun;118 ( Pt 3):721-34.

PMID:
7600089
11.

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R.

Neurology. 1999 Jan 15;52(2):377-82.

PMID:
9932960
12.

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M.

Heart. 1998 Dec;80(6):548-58. Erratum in: Heart 1999 Mar;81(3):330.

13.

Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.

Ueki I, Koga Y, Povalko N, Akita Y, Nishioka J, Yatsuga S, Fukiyama R, Matsuishi T.

Mitochondrion. 2006 Feb;6(1):29-36. Epub 2005 Dec 5.

PMID:
16337222
14.

Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.

Darin N, Kollberg G, Moslemi AR, Tulinius M, Holme E, Grönlund MA, Andersson S, Oldfors A.

Neuromuscul Disord. 2006 Aug;16(8):504-6. Epub 2006 Jun 27.

PMID:
16806928
16.
17.

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S.

Arch Neurol. 2007 Sep;64(9):1339-43.

PMID:
17846276
18.

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.

De Paepe B, Smet J, Lammens M, Seneca S, Martin JJ, De Bleecker J, De Meirleir L, Lissens W, Van Coster R.

J Clin Pathol. 2009 Feb;62(2):172-6. doi: 10.1136/jcp.2008.061267.

PMID:
19181635
19.
20.

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

Kornblum C, Zsurka G, Wiesner RJ, Schröder R, Kunz WS.

Biosci Rep. 2008 Apr;28(2):89-96. doi: 10.1042/BSR20080004.

PMID:
18384291

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