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Results: 1 to 20 of 100

1.

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
[PubMed - in process]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.
5.

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
[PubMed - indexed for MEDLINE]
6.

Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.

Mancuso M, Nesti C, Ienco EC, Orsucci D, Pizzanelli C, Chiti A, Giorgi FS, Meschini MC, Fontanini G, Santorelli FM, Logerfo A, Romano A, Siciliano G, Bonuccelli U.

Am J Med Genet A. 2014 Aug 14. doi: 10.1002/ajmg.a.36725. [Epub ahead of print]

PMID:
25125337
[PubMed - as supplied by publisher]
7.

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
[PubMed - indexed for MEDLINE]
8.

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW.

Eur J Hum Genet. 2004 Sep;12(9):778-81.

PMID:
15199381
[PubMed - indexed for MEDLINE]
Free Article
9.

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.

Sallevelt SC, Dreesen JC, Drüsedau M, Spierts S, Coonen E, van Tienen FH, van Golde RJ, de Coo IF, Geraedts JP, de Die-Smulders CE, Smeets HJ.

J Med Genet. 2013 Feb;50(2):125-32. doi: 10.1136/jmedgenet-2012-101172.

PMID:
23339111
[PubMed - indexed for MEDLINE]
10.

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 Jul 30. pii: S1567-7249(14)00099-3. doi: 10.1016/j.mito.2014.07.008. [Epub ahead of print]

PMID:
25086207
[PubMed - as supplied by publisher]
11.

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
[PubMed - in process]
12.

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.

Brackmann F, Abicht A, Ahting U, Schröder R, Trollmann R.

Eur J Pediatr. 2012 May;171(5):859-62. doi: 10.1007/s00431-011-1662-8. Epub 2012 Jan 25.

PMID:
22270878
[PubMed - indexed for MEDLINE]
13.

Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

Parsons T, Weimer L, Engelstad K, Linker A, Battista V, Wei Y, Hirano M, Dimauro S, De Vivo DC, Kaufmann P.

Arch Neurol. 2010 Aug;67(8):976-9. doi: 10.1001/archneurol.2010.174.

PMID:
20697048
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
22403016
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.

Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM.

Neuropathol Appl Neurobiol. 2006 Aug;32(4):359-73.

PMID:
16866982
[PubMed - indexed for MEDLINE]
17.

[Diseases caused by mutations in mitochondrial DNA].

Wojewoda M, Zabłocki K, Szczepanowska J.

Postepy Biochem. 2011;57(2):222-9. Review. Polish.

PMID:
21913424
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A > G).

Sproule DM, Dyme J, Coku J, de Vinck D, Rosenzweig E, Chung WK, De Vivo DC.

J Inherit Metab Dis. 2008 Jan 7. [Epub ahead of print]

PMID:
18181029
[PubMed - as supplied by publisher]
20.

Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families.

Ma Y, Fang F, Cao Y, Yang Y, Zou L, Zhang Y, Wang S, Zhu S, Xu Y, Pei P, Qi Y.

J Neurol Sci. 2010 Apr 15;291(1-2):17-21. doi: 10.1016/j.jns.2010.01.012. Epub 2010 Feb 9.

PMID:
20149394
[PubMed - indexed for MEDLINE]

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