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Items: 1 to 20 of 103

1.

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.

Neurology. 2013 Jan 1;80(1):100-5. doi: 10.1212/WNL.0b013e31827b1a2f. Epub 2012 Dec 12.

PMID:
23243073
2.

Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.

Fayssoil A, Laforêt P, Bougouin W, Jardel C, Lombès A, Bécane HM, Berber N, Stojkovic T, Béhin A, Eymard B, Duboc D, Wahbi K.

Eur J Neurol. 2017 Feb;24(2):255-261. doi: 10.1111/ene.13176. Epub 2016 Nov 21.

PMID:
27869334
3.

Cardiac involvement in adults with m.3243A>G MELAS gene mutation.

Vydt TC, de Coo RF, Soliman OI, Ten Cate FJ, van Geuns RJ, Vletter WB, Schoonderwoerd K, van den Bosch BJ, Smeets HJ, Geleijnse ML.

Am J Cardiol. 2007 Jan 15;99(2):264-9. Epub 2006 Nov 29.

PMID:
17223431
4.

Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome.

Fayssoil A.

Congest Heart Fail. 2009 Nov-Dec;15(6):284-7. doi: 10.1111/j.1751-7133.2009.00108.x. Review.

5.

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.

Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP.

J Med Genet. 2006 Oct;43(10):788-92. Epub 2006 May 11.

6.

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

Wahbi K, Bougouin W, Béhin A, Stojkovic T, Bécane HM, Jardel C, Berber N, Mochel F, Lombès A, Eymard B, Duboc D, Laforêt P.

Eur Heart J. 2015 Nov 7;36(42):2886-93. doi: 10.1093/eurheartj/ehv307. Epub 2015 Jul 29.

PMID:
26224072
7.
8.

Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease.

Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y.

J Hum Genet. 2001;46(6):330-4.

PMID:
11393536
9.

High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.

Cevoli S, Pallotti F, La Morgia C, Valentino ML, Pierangeli G, Cortelli P, Baruzzi A, Montagna P, Carelli V.

Cephalalgia. 2010 Aug;30(8):919-27. doi: 10.1177/0333102409354654. Epub 2010 Mar 12.

PMID:
20656703
10.

Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.

Marotta R, Reardon K, McKelvie PA, Chiotis M, Chin J, Cook M, Collins SJ.

J Clin Neurosci. 2009 Sep;16(9):1223-5. doi: 10.1016/j.jocn.2008.11.012. Epub 2009 Jun 6.

PMID:
19502062
11.

Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA.

Wahbi K, Larue S, Jardel C, Meune C, Stojkovic T, Ziegler F, Lombès A, Eymard B, Duboc D, Laforêt P.

Neurology. 2010 Feb 23;74(8):674-7. doi: 10.1212/WNL.0b013e3181d0ccf4.

PMID:
20177121
12.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC.

Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212/WNL.0b013e31823a0c7f. Epub 2011 Nov 16.

13.

Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: a molecular diagnostic laboratory perspective.

Chin J, Marotta R, Chiotis M, Allan EH, Collins SJ.

Mitochondrion. 2014 Jul;17:34-41. doi: 10.1016/j.mito.2014.05.005. Epub 2014 May 17.

PMID:
24846800
14.

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Jahoor F, Scaglia F, Craigen WJ.

Mitochondrion. 2014 Sep;18:63-9. doi: 10.1016/j.mito.2014.07.008. Epub 2014 Jul 30.

15.

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation.

van Eijsden RG, Eijssen LM, Lindsey PJ, van den Burg CM, de Wit LE, Rubio-Gozalbo ME, de Die CE, Ayoubi T, Sluiter W, de Coo IF, Smeets HJ.

J Med Genet. 2008 Aug;45(8):525-34. doi: 10.1136/jmg.2008.057497. Epub 2008 May 2.

PMID:
18456717
16.

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.

Tschampa HJ, Urbach H, Greschus S, Kunz WS, Kornblum C.

J Neurol. 2013 Apr;260(4):1071-80. doi: 10.1007/s00415-012-6763-4. Epub 2012 Nov 30.

PMID:
23196335
17.

Wolff-Parkinson-White syndrome in Patients With MELAS.

Sproule DM, Kaufmann P, Engelstad K, Starc TJ, Hordof AJ, De Vivo DC.

Arch Neurol. 2007 Nov;64(11):1625-7.

PMID:
17998445
19.

Pediatric stroke among Hong Kong Chinese subjects.

Chung B, Wong V.

Pediatrics. 2004 Aug;114(2):e206-12.

PMID:
15286258

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