392 related articles for article (PubMed ID: 33438095)
1. One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
Esterhuizen K; Lindeque JZ; Mason S; van der Westhuizen FH; Rodenburg RJ; de Laat P; Smeitink JAM; Janssen MCH; Louw R
Metabolomics; 2021 Jan; 17(1):10. PubMed ID: 33438095
[TBL] [Abstract][Full Text] [Related]
2. MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level.
de Wit HM; Westeneng HJ; van Engelen BG; Mudde AH
Neth J Med; 2012 Dec; 70(10):460-2. PubMed ID: 23230016
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22403016
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 23355809
[TBL] [Abstract][Full Text] [Related]
5. Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report.
Fukuda M; Nagao Y
J Med Case Rep; 2019 Oct; 13(1):313. PubMed ID: 31630688
[TBL] [Abstract][Full Text] [Related]
6. Impediments to Heart Transplantation in Adults With MELAS
Di Toro A; Urtis M; Narula N; Giuliani L; Grasso M; Pasotti M; Pellegrini C; Serio A; Pilotto A; Antoniazzi E; Rampino T; Magrassi L; Valentini A; Cavallini A; Scelsi L; Ghio S; Abelli M; Olivotto I; Porcu M; Gavazzi A; Kodama T; Arbustini E
J Am Coll Cardiol; 2022 Oct; 80(15):1431-1443. PubMed ID: 36202533
[TBL] [Abstract][Full Text] [Related]
7. Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.
Oishi N; Kubota D; Nakamoto K; Takeda Y; Hayashi M; Gocho K; Yamaki K; Igarashi T; Takahashi H; Kameya S
Ophthalmic Genet; 2021 Jun; 42(3):304-311. PubMed ID: 33541179
[No Abstract] [Full Text] [Related]
8. De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.
Jiang Z; Zhang Y; Yan J; Li F; Geng X; Lu H; Wei X; Feng Y; Wang C; Jia W
J Diabetes Res; 2019; 2019():5184647. PubMed ID: 31143779
[TBL] [Abstract][Full Text] [Related]
9. Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.
Haast RAM; Ivanov D; IJsselstein RJT; Sallevelt SCEH; Jansen JFA; Smeets HJM; de Coo IFM; Formisano E; Uludağ K
Neuroimage Clin; 2018; 18():231-244. PubMed ID: 29868447
[TBL] [Abstract][Full Text] [Related]
10. Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.
Ferreira F; Gonçalves Bacelar C; Lisboa-Gonçalves P; Paulo N; Quental R; Nunes AT; Silva R; Tavares I
Nefrologia (Engl Ed); 2023 Dec; 43 Suppl 2():1-7. PubMed ID: 38355238
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria.
Adema AY; Janssen MC; van der Heijden JW
Neth J Med; 2016 Dec; 74(10):455-457. PubMed ID: 27966441
[TBL] [Abstract][Full Text] [Related]
12. The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetes.
Zhu J; Yang P; Liu X; Yan L; Rampersad S; Li F; Li H; Sheng C; Cheng X; Zhang M; Qu S
J Diabetes Complications; 2017 Aug; 31(8):1354-1359. PubMed ID: 28599824
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).
Niedermayr K; Pölzl G; Scholl-Bürgi S; Fauth C; Schweigmann U; Haberlandt E; Albrecht U; Zlamy M; Sperl W; Mayr JA; Karall D
Congenit Heart Dis; 2018 Sep; 13(5):671-677. PubMed ID: 30133155
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 24375076
[TBL] [Abstract][Full Text] [Related]
15. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
Hall AM; Vilasi A; Garcia-Perez I; Lapsley M; Alston CL; Pitceathly RD; McFarland R; Schaefer AM; Turnbull DM; Beaumont NJ; Hsuan JJ; Cutillas PR; Lindon JC; Holmes E; Unwin RJ; Taylor RW; Gorman GS; Rahman S; Hanna MG
Kidney Int; 2015 Mar; 87(3):610-22. PubMed ID: 25207879
[TBL] [Abstract][Full Text] [Related]
16. A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).
Esterhuizen K; Lindeque JZ; Mason S; van der Westhuizen FH; Suomalainen A; Hakonen AH; Carroll CJ; Rodenburg RJ; de Laat PB; Janssen MCH; Smeitink JAM; Louw R
Mitochondrion; 2019 Mar; 45():38-45. PubMed ID: 29471047
[TBL] [Abstract][Full Text] [Related]
17. Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome.
Florez I; Pirrone I; Casique L; Domínguez CL; Mahfoud A; Rodríguez T; Rodríguez D; De Lucca M; Ramírez JL
Clin Biochem; 2022; 109-110():98-101. PubMed ID: 36130631
[TBL] [Abstract][Full Text] [Related]
18. Brain anomalies in maternally inherited diabetes and deafness syndrome.
Fromont I; Nicoli F; Valéro R; Felician O; Lebail B; Lefur Y; Mancini J; Paquis-Flucklinger V; Cozzone PJ; Vialettes B
J Neurol; 2009 Oct; 256(10):1696-704. PubMed ID: 19536585
[TBL] [Abstract][Full Text] [Related]
19. The heart in m.3243A>G carriers.
Finsterer J; Zarrouk-Mahjoub S
Herz; 2020 Jun; 45(4):356-361. PubMed ID: 30128910
[TBL] [Abstract][Full Text] [Related]
20. Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism.
McMillan RP; Stewart S; Budnick JA; Caswell CC; Hulver MW; Mukherjee K; Srivastava S
Sci Rep; 2019 Apr; 9(1):5752. PubMed ID: 30962477
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
