These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 8530975)

  • 1. Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.
    Fabrizi GM; Tiranti V; Mariotti C; Guazzi GC; Malandrini A; DiDonato S; Zeviani M
    J Neurol; 1995 Aug; 242(8):490-6. PubMed ID: 8530975
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
    Houshmand M; Lindberg C; Moslemi AR; Oldfors A; Holme E
    Hum Mutat; 1999; 13(3):203-9. PubMed ID: 10090475
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy.
    Sanaker PS; Nakkestad HL; Downham E; Bindoff LA
    Acta Neurol Scand; 2010 Feb; 121(2):109-13. PubMed ID: 19744136
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 118 ( Pt 3)():721-34. PubMed ID: 7600089
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.
    Hanna MG; Nelson I; Sweeney MG; Cooper JM; Watkins PJ; Morgan-Hughes JA; Harding AE
    Am J Hum Genet; 1995 May; 56(5):1026-33. PubMed ID: 7726155
    [TBL] [Abstract][Full Text] [Related]  

  • 7. X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.
    de Vries DD; de Wijs IJ; Wolff G; Ketelsen UP; Ropers HH; van Oost BA
    Hum Genet; 1993 Mar; 91(1):51-4. PubMed ID: 8454287
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy.
    Verma A; Piccoli DA; Bonilla E; Berry GT; DiMauro S; Moraes CT
    Pediatr Res; 1997 Oct; 42(4):448-54. PubMed ID: 9380435
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene.
    Shoffner JM; Bialer MG; Pavlakis SG; Lott M; Kaufman A; Dixon J; Teichberg S; Wallace DC
    Neurology; 1995 Feb; 45(2):286-92. PubMed ID: 7854527
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
    Zeviani M; Muntoni F; Savarese N; Serra G; Tiranti V; Carrara F; Mariotti C; DiDonato S
    Eur J Hum Genet; 1993; 1(1):80-7. PubMed ID: 8069654
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mitochondrial encephalomyopathy in Drosophila.
    Celotto AM; Frank AC; McGrath SW; Fergestad T; Van Voorhies WA; Buttle KF; Mannella CA; Palladino MJ
    J Neurosci; 2006 Jan; 26(3):810-20. PubMed ID: 16421301
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
    Santorelli FM; Tanji K; Sano M; Shanske S; El-Shahawi M; Kranz-Eble P; DiMauro S; De Vivo DC
    Ann Neurol; 1997 Aug; 42(2):256-60. PubMed ID: 9266739
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The molecular genetics of mitochondrial cytopathies: the Melbourne experience.
    Thyagarajan D; Byrne E; Dennet X; Marzuki S
    Clin Exp Neurol; 1992; 29():172-81. PubMed ID: 1343860
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
    Elpeleg O; Miller C; Hershkovitz E; Bitner-Glindzicz M; Bondi-Rubinstein G; Rahman S; Pagnamenta A; Eshhar S; Saada A
    Am J Hum Genet; 2005 Jun; 76(6):1081-6. PubMed ID: 15877282
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
    Clark KM; Taylor RW; Johnson MA; Chinnery PF; Chrzanowska-Lightowlers ZM; Andrews RM; Nelson IP; Wood NW; Lamont PJ; Hanna MG; Lightowlers RN; Turnbull DM
    Am J Hum Genet; 1999 May; 64(5):1330-9. PubMed ID: 10205264
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.