BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 24375076)

  • 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. PubMed ID: 24375076
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 23355809
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. The phenotypic spectrum of fifty Czech m.3243A>G carriers.
    Dvorakova V; Kolarova H; Magner M; Tesarova M; Hansikova H; Zeman J; Honzik T
    Mol Genet Metab; 2016 Aug; 118(4):288-95. PubMed ID: 27296531
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
    Chakrabarty S; Govindaraj P; Sankaran BP; Nagappa M; Kabekkodu SP; Jayaram P; Mallya S; Deepha S; Ponmalar JNJ; Arivinda HR; Meena AK; Jha RK; Sinha S; Gayathri N; Taly AB; Thangaraj K; Satyamoorthy K
    J Neurol; 2021 Jun; 268(6):2192-2207. PubMed ID: 33484326
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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):257-262. PubMed ID: 26566914
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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. PubMed ID: 8042948
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heteroplasmy and phenotype spectrum of the mitochondrial tRNA
    Liu G; Shen X; Sun Y; Lv Q; Li Y; Du A
    J Neurol Sci; 2020 Jan; 408():116562. PubMed ID: 31722256
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases.
    Yagi K; Okazaki S; Ohbatake A; Nakaya M; Liu J; Arite E; Miyamoto Y; Ito N; Nakano K; Yamaaki N; Honoki H; Fujisaka S; Chujo D; Tsunoda SI; Yanagimoto K; Nozue T; Yamada M; Ooe K; Araki T; Nakashima A; Azami Y; Sodemoto Y; Tadokoro K; Nagano M; Noguchi T; Nohara A; Origasa H; Niida Y; Tada H
    Mol Genet Metab; 2023 Nov; 140(3):107691. PubMed ID: 37660570
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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. PubMed ID: 23196335
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 26455484
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Forecasting stroke-like episodes and outcomes in mitochondrial disease.
    Ng YS; Lax NZ; Blain AP; Erskine D; Baker MR; Polvikoski T; Thomas RH; Morris CM; Lai M; Whittaker RG; Gebbels A; Winder A; Hall J; Feeney C; Farrugia ME; Hirst C; Roberts M; Lawthom C; Chrysostomou A; Murphy K; Baird T; Maddison P; Duncan C; Poulton J; Nesbitt V; Hanna MG; Pitceathly RDS; Taylor RW; Blakely EL; Schaefer AM; Turnbull DM; McFarland R; Gorman GS
    Brain; 2022 Apr; 145(2):542-554. PubMed ID: 34927673
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 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. PubMed ID: 10799437
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
    Nakamura M; Yabe I; Sudo A; Hosoki K; Yaguchi H; Saitoh S; Sasaki H
    J Med Genet; 2010 Oct; 47(10):659-64. PubMed ID: 20610441
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.