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Items: 1 to 20 of 151

1.

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R.

J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):936-8. doi: 10.1136/jnnp-2012-303528. Epub 2013 Jan 25.

PMID:
23355809
2.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29.

PMID:
24375076
3.

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.

Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E.

Aust N Z J Med. 1994 Apr;24(2):188-93.

PMID:
8042948
5.

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA.

J Inherit Metab Dis. 2012 Nov;35(6):1059-69. doi: 10.1007/s10545-012-9465-2. Epub 2012 Mar 9. Erratum in: J Inherit Metab Dis. 2012 Nov;35(6):1155-6.

6.

Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.

Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH.

J Formos Med Assoc. 1999 May;98(5):326-34.

PMID:
10420700
7.

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.

Tatlisumak T, Putaala J, Innilä M, Enzinger C, Metso TM, Curtze S, von Sarnowski B, Amaral-Silva A, Jungehulsing GJ, Tanislav C, Thijs V, Rolfs A, Norrving B, Fazekas F, Suomalainen A, Kolodny EH.

J Neurol. 2016 Feb;263(2):257-62. doi: 10.1007/s00415-015-7969-z. Epub 2015 Nov 14.

PMID:
26566914
8.

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.

de Laat P, Fleuren LH, Bekker MN, Smeitink JA, Janssen MC.

Mitochondrion. 2015 Nov;25:98-103. doi: 10.1016/j.mito.2015.10.005. Epub 2015 Oct 9.

PMID:
26455484
9.

The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes.

Laloi-Michelin M, Meas T, Ambonville C, Bellanné-Chantelot C, Beaufils S, Massin P, Vialettes B, Gin H, Timsit J, Bauduceau B, Bernard L, Bertin E, Blickle JF, Cahen-Varsaux J, Cailleba A, Casanova S, Cathebras P, Charpentier G, Chedin P, Crea T, Delemer B, Dubois-Laforgue D, Duchemin F, Ducluzeau PH, Bouhanick B, Dusselier L, Gabreau T, Grimaldi A, Guerci B, Jacquin V, Kaloustian E, Larger E, Lecleire-Collet A, Lorenzini F, Louis J, Mausset J, Murat A, Nadler-Fluteau S, Olivier F, Paquis-Flucklinger V, Paris-Bockel D, Raynaud I, Reznik Y, Riveline JP, Schneebeli S, Sonnet E, Sola-Gazagnes A, Thomas JL, Trabulsi B, Virally M, Guillausseau PJ; Mitochondrial Diabetes French Study Group..

J Clin Endocrinol Metab. 2009 Aug;94(8):3025-30. doi: 10.1210/jc.2008-2680. Epub 2009 May 26.

PMID:
19470619
10.

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.

11.

Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.

Martikainen MH, Rönnemaa T, Majamaa K.

Acta Diabetol. 2013 Oct;50(5):737-41. doi: 10.1007/s00592-012-0393-2. Epub 2012 Apr 11.

PMID:
22492248
12.

Three families with 'de novo' m.3243A > G mutation.

de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA.

BBA Clin. 2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016 Dec.

13.

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Kärppä M, Majamaa-Voltti KA, Rusanen H, Sorri M, Peuhkurinen KJ, Hassinen IE.

Am J Hum Genet. 1998 Aug;63(2):447-54.

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.

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
16.

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, Wallace DC.

Mol Diagn Ther. 2006;10(6):381-9.

PMID:
17154655
17.

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
18.

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
19.

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Koga Y, Akita Y, Takane N, Sato Y, Kato H.

Arch Dis Child. 2000 May;82(5):407-11.

20.

Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.

Sekino Y, Inamori M, Yamada E, Ohkubo H, Sakai E, Higurashi T, Iida H, Hosono K, Endo H, Nonaka T, Takahashi H, Koide T, Abe Y, Gotoh E, Koyano S, Kuroiwa Y, Maeda S, Nakajima A.

World J Gastroenterol. 2012 Sep 7;18(33):4557-62. doi: 10.3748/wjg.v18.i33.4557.

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