BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 18977334)

  • 1. Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
    Valente L; Piga D; Lamantea E; Carrara F; Uziel G; Cudia P; Zani A; Farina L; Morandi L; Mora M; Spinazzola A; Zeviani M; Tiranti V
    Biochim Biophys Acta; 2009 May; 1787(5):491-501. PubMed ID: 18977334
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
    Manfredi G; Schon EA; Bonilla E; Moraes CT; Shanske S; DiMauro S
    Hum Mutat; 1996; 7(2):158-63. PubMed ID: 8829635
    [No Abstract]   [Full Text] [Related]  

  • 3. Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
    Song D; Zhang Y; Shi J; Lü Q; Chen J; Zhang H; Zhang W; Wang H; Cai Q
    Chin Med J (Engl); 2001 Dec; 114(12):1273-5. PubMed ID: 11793851
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
    Malfatti E; Bugiani M; Invernizzi F; de Souza CF; Farina L; Carrara F; Lamantea E; Antozzi C; Confalonieri P; Sanseverino MT; Giugliani R; Uziel G; Zeviani M
    Brain; 2007 Jul; 130(Pt 7):1894-904. PubMed ID: 17535832
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.
    Sternberg D; Chatzoglou E; Laforêt P; Fayet G; Jardel C; Blondy P; Fardeau M; Amselem S; Eymard B; Lombès A
    Brain; 2001 May; 124(Pt 5):984-94. PubMed ID: 11335700
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus.
    Hirai M; Suzuki S; Onoda M; Hinokio Y; Ai L; Hirai A; Ohtomo M; Komatsu K; Kasuga S; Satoh Y; Akai H; Toyota T
    Biochem Biophys Res Commun; 1996 Feb; 219(3):951-5. PubMed ID: 8645285
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
    Houshmand M; Gardner A; Hällström T; Müntzing K; Oldfors A; Holme E
    Neuromuscul Disord; 2004 Mar; 14(3):195-201. PubMed ID: 15036329
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy.
    Checcarelli N; Prelle A; Moggio M; Comi G; Bresolin N; Papadimitriou A; Fagiolari G; Bordoni A; Scarlato G
    J Neurol Sci; 1994 May; 123(1-2):74-9. PubMed ID: 8064325
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis.
    Jaksch M; Gerbitz KD; Kilger C
    Clin Biochem; 1995 Oct; 28(5):503-9. PubMed ID: 8582049
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.
    Pulkes T; Eunson L; Patterson V; Siddiqui A; Wood NW; Nelson IP; Morgan-Hughes JA; Hanna MG
    Ann Neurol; 1999 Dec; 46(6):916-9. PubMed ID: 10589546
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.
    Bidooki SK; Johnson MA; Chrzanowska-Lightowlers Z; Bindoff LA; Lightowlers RN
    Am J Hum Genet; 1997 Jun; 60(6):1430-8. PubMed ID: 9199564
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
    Uusimaa J; Finnilä S; Remes AM; Rantala H; Vainionpää L; Hassinen IE; Majamaa K
    Pediatrics; 2004 Aug; 114(2):443-50. PubMed ID: 15286228
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.
    Mirabella M; Di Giovanni S; Silvestri G; Tonali P; Servidei S
    Brain; 2000 Jan; 123 ( Pt 1)():93-104. PubMed ID: 10611124
    [TBL] [Abstract][Full Text] [Related]  

  • 14. New morphological approaches to the study of mitochondrial encephalomyopathies.
    Bonilla E; Sciacco M; Tanji K; Sparaco M; Petruzzella V; Moraes CT
    Brain Pathol; 1992 Apr; 2(2):113-9. PubMed ID: 1341952
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.
    Sunami Y; Sugaya K; Chihara N; Goto Y; Matsubara S
    Neurol Sci; 2011 Oct; 32(5):861-4. PubMed ID: 21863273
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
    Wani AA; Ahanger SH; Bapat SA; Rangrez AY; Hingankar N; Suresh CG; Barnabas S; Patole MS; Shouche YS
    PLoS One; 2007 Sep; 2(9):e942. PubMed ID: 17895983
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.
    Keightley JA; Anitori R; Burton MD; Quan F; Buist NR; Kennaway NG
    Am J Hum Genet; 2000 Dec; 67(6):1400-10. PubMed ID: 11047755
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
    Morgan-Hughes JA; Sweeney MG; Cooper JM; Hammans SR; Brockington M; Schapira AH; Harding AE; Clark JB
    Biochim Biophys Acta; 1995 May; 1271(1):135-40. PubMed ID: 7599199
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial encephalomyopathies.
    DiMauro S; Moraes CT
    Arch Neurol; 1993 Nov; 50(11):1197-208. PubMed ID: 8215979
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
    Marotta R; Chin J; Quigley A; Katsabanis S; Kapsa R; Byrne E; Collins S
    Intern Med J; 2004; 34(1-2):10-9. PubMed ID: 14748908
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.