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278 related items for PubMed ID: 16690729

  • 1. 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. PubMed ID: 16690729
    [Abstract] [Full Text] [Related]

  • 2. Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families.
    Liu G, Shen X, Sun Y, Lv Q, Li Y, Du A.
    J Neurol Sci; 2020 Jan 15; 408():116562. PubMed ID: 31722256
    [Abstract] [Full Text] [Related]

  • 3. Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
    Monnot S, Gigarel N, Samuels DC, Burlet P, Hesters L, Frydman N, Frydman R, Kerbrat V, Funalot B, Martinovic J, Benachi A, Feingold J, Munnich A, Bonnefont JP, Steffann J.
    Hum Mutat; 2011 Jan 15; 32(1):116-25. PubMed ID: 21120938
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 5. Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
    Steffann J, Gigarel N, Corcos J, Bonnière M, Encha-Razavi F, Sinico M, Prevot S, Dumez Y, Yamgnane A, Frydman R, Munnich A, Bonnefont JP.
    J Med Genet; 2007 Oct 15; 44(10):664-9. PubMed ID: 17545557
    [Abstract] [Full Text] [Related]

  • 6. MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.
    Huang CC, Chen RS, Chen CM, Wang HS, Lee CC, Pang CY, Hsu HS, Lee HC, Wei YH.
    J Neurol Neurosurg Psychiatry; 1994 May 15; 57(5):586-9. PubMed ID: 8201329
    [Abstract] [Full Text] [Related]

  • 7. Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
    Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S.
    Intern Med; 2017 May 15; 56(1):95-99. PubMed ID: 28050007
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 118 ( Pt 3)():721-34. PubMed ID: 7600089
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 13(5):671-677. PubMed ID: 30133155
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 268(6):2192-2207. PubMed ID: 33484326
    [Abstract] [Full Text] [Related]

  • 11. 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 Jun 15; 10(6):381-9. PubMed ID: 17154655
    [Abstract] [Full Text] [Related]

  • 12. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
    Goto Y, Nonaka I, Horai S.
    Biochim Biophys Acta; 1991 Oct 21; 1097(3):238-40. PubMed ID: 1932147
    [Abstract] [Full Text] [Related]

  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, El-Hattab AW, Almannai M, Scaglia F.
    ; 1993 Oct 21. PubMed ID: 20301411
    [Abstract] [Full Text] [Related]

  • 14. Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.
    Li W, Zhang W, Li F, Wang C.
    Int J Clin Exp Pathol; 2015 Oct 21; 8(6):7022-7. PubMed ID: 26261593
    [Abstract] [Full Text] [Related]

  • 15. High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
    Cevoli S, Pallotti F, La Morgia C, Valentino ML, Pierangeli G, Cortelli P, Baruzzi A, Montagna P, Carelli V.
    Cephalalgia; 2010 Aug 21; 30(8):919-27. PubMed ID: 20656703
    [Abstract] [Full Text] [Related]

  • 16. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.
    Chomyn A, Enriquez JA, Micol V, Fernandez-Silva P, Attardi G.
    J Biol Chem; 2000 Jun 23; 275(25):19198-209. PubMed ID: 10858457
    [Abstract] [Full Text] [Related]

  • 17. Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.
    Inui K, Fukushima H, Tsukamoto H, Taniike M, Midorikawa M, Tanaka J, Nishigaki T, Okada S.
    J Pediatr; 1992 Jan 23; 120(1):62-6. PubMed ID: 1370535
    [Abstract] [Full Text] [Related]

  • 18. 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 12; 17(1):10. PubMed ID: 33438095
    [Abstract] [Full Text] [Related]

  • 19. MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.
    Prasad M, Narayan B, Prasad AN, Rupar CA, Levin S, Kronick J, Ramsay D, Tay KY, Prasad C.
    Can J Neurol Sci; 2014 Mar 12; 41(2):210-9. PubMed ID: 24534033
    [Abstract] [Full Text] [Related]

  • 20. Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
    Scarcella S, Dell'Arti L, Gagliardi D, Magri F, Govoni A, Velardo D, Mainetti C, Minorini V, Ronchi D, Piga D, Comi GP, Corti S, Meneri M.
    BMC Neurol; 2023 Apr 24; 23(1):165. PubMed ID: 37095452
    [Abstract] [Full Text] [Related]

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