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Results: 1 to 20 of 104

Similar articles for PubMed (Select 19470628)

1.

High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.

Frederiksen AL, Jeppesen TD, Vissing J, Schwartz M, Kyvik KO, Schmitz O, Poulsen PL, Andersen PH.

J Clin Endocrinol Metab. 2009 Aug;94(8):2872-9. doi: 10.1210/jc.2009-0235. Epub 2009 May 26.

PMID:
19470628
2.

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
3.

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.

4.

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

Jeppesen TD, Schwartz M, Frederiksen AL, Wibrand F, Olsen DB, Vissing J.

Arch Neurol. 2006 Dec;63(12):1701-6.

PMID:
17172609
5.

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Kärppä M, Herva R, Moslemi AR, Oldfors A, Kakko S, Majamaa K.

Brain. 2005 Aug;128(Pt 8):1861-9. Epub 2005 Apr 27.

6.

[Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness].

Cataldo LR, Olmos P, Valerie Smalley S, Díez A, Parada A, Gejman R, Fadic R, Santos JL.

Rev Med Chil. 2013 Mar;141(3):305-12. doi: 10.4067/S0034-98872013000300004. Spanish.

7.

m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction.

Lindroos MM, Majamaa K, Tura A, Mari A, Kalliokoski KK, Taittonen MT, Iozzo P, Nuutila P.

Diabetes. 2009 Mar;58(3):543-9. doi: 10.2337/db08-0981. Epub 2008 Dec 10.

8.

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
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.

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.

Rubegni A, Cardaioli E, Chini E, Da Pozzo P, Battisti C, Malandrini A, Federico A.

J Neurol Sci. 2014 Mar 15;338(1-2):232-4. doi: 10.1016/j.jns.2014.01.010. Epub 2014 Jan 14.

PMID:
24468540
11.

The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation.

Suzuki S, Hinokio Y, Ohtomo M, Hirai M, Hirai A, Chiba M, Kasuga S, Satoh Y, Akai H, Toyota T.

Diabetologia. 1998 May;41(5):584-8.

PMID:
9628277
12.

[Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA].

Gál A, Szabó A, Pentelényi K, Pál Z.

Orv Hetil. 2008 Aug 24;149(34):1593-8. doi: 10.1556/OH.2008.28398. Review. Hungarian.

PMID:
18708313
13.

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
14.

Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy.

Jeppesen TD, Schwartz M, Olsen DB, Vissing J.

Ann Neurol. 2003 Jul;54(1):86-92.

PMID:
12838523
15.

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.

PMID:
25086207
16.

HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness.

van Essen EH, Roep BO, 't Hart LM, Jansen JJ, Van den Ouweland JM, Lemkes HH, Maassen JA.

Diabet Med. 2000 Dec;17(12):841-7.

PMID:
11168326
17.

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

Uusimaa J, Moilanen JS, Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen T, Mäki-Torkko E, Rantala H, Majamaa K.

Ann Neurol. 2007 Sep;62(3):278-87.

PMID:
17823937
18.

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.

19.

Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA.

Azevedo O, Vilarinho L, Almeida F, Ferreira F, Guardado J, Ferreira M, Lourenço A, Medeiros R, Almeida J.

Cardiology. 2010;115(1):71-4. doi: 10.1159/000252811. Epub 2009 Oct 27.

PMID:
19864902
20.

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
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