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 *

203 related articles for article (PubMed ID: 17106447)

  • 21. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.
    Lim BC; Park JD; Hwang H; Kim KJ; Hwang YS; Chae JH; Cheon JE; Kim IO; Lee R; Moon HK
    J Child Neurol; 2009 Jul; 24(7):828-32. PubMed ID: 19617458
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.
    Leshinsky-Silver E; Shuvalov R; Inbar S; Cohen S; Lev D; Lerman-Sagie T
    J Child Neurol; 2011 Apr; 26(4):476-81. PubMed ID: 21196529
    [TBL] [Abstract][Full Text] [Related]  

  • 23. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
    Ng YS; Lax NZ; Maddison P; Alston CL; Blakely EL; Hepplewhite PD; Riordan G; Meldau S; Chinnery PF; Pierre G; Chronopoulou E; Du A; Hughes I; Morris AA; Kamakari S; Chrousos G; Rodenburg RJ; Saris CGJ; Feeney C; Hardy SA; Sakakibara T; Sudo A; Okazaki Y; Murayama K; Mundy H; Hanna MG; Ohtake A; Schaefer AM; Champion MP; Turnbull DM; Taylor RW; Pitceathly RDS; McFarland R; Gorman GS
    EBioMedicine; 2018 Apr; 30():86-93. PubMed ID: 29506874
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C.
    Kori A; Hori I; Tanaka T; Aoyama K; Ito K; Hattori A; Ban K; Okazaki Y; Murayama K; Saitoh S
    Brain Dev; 2019 Oct; 41(9):803-807. PubMed ID: 31178082
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
    Corona P; Antozzi C; Carrara F; D'Incerti L; Lamantea E; Tiranti V; Zeviani M
    Ann Neurol; 2001 Jan; 49(1):106-10. PubMed ID: 11198278
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
    Heidary G; Calderwood L; Cox GF; Robson CD; Teot LA; Mullon J; Anselm I
    J Neuroophthalmol; 2014 Mar; 34(1):39-43. PubMed ID: 24284555
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.
    Brecht M; Richardson M; Taranath A; Grist S; Thorburn D; Bratkovic D
    JIMD Rep; 2015; 19():95-100. PubMed ID: 25681084
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Mitochondrial ND5 as the causative gene of Leight syndrome].
    Wang K; Yan CZ; Wang GX; Jiao JS; Jin M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Dec; 27(6):616-9. PubMed ID: 21154318
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
    Danhelovska T; Kolarova H; Zeman J; Hansikova H; Vaneckova M; Lambert L; Kucerova-Vidrova V; Berankova K; Honzik T; Tesarova M
    BMC Pediatr; 2020 Jan; 20(1):41. PubMed ID: 31996177
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes/Leigh Overlap Syndrome Due to Variant m.13513G>A in MT-ND5.
    Finsterer J; Hayman J
    Cureus; 2022 May; 14(5):e24746. PubMed ID: 35677009
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
    Maalej M; Kammoun T; Alila-Fersi O; Kharrat M; Ammar M; Felhi R; Mkaouar-Rebai E; Keskes L; Hachicha M; Fakhfakh F
    Biochem Biophys Res Commun; 2018 Mar; 497(4):1043-1048. PubMed ID: 29481804
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
    Martín MA; Blázquez A; Gutierrez-Solana LG; Fernández-Moreira D; Briones P; Andreu AL; Garesse R; Campos Y; Arenas J
    Arch Neurol; 2005 Apr; 62(4):659-61. PubMed ID: 15824269
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA.
    Baiker K; Hofmann S; Fischer A; Gödde T; Medl S; Schmahl W; Bauer MF; Matiasek K
    Acta Neuropathol; 2009 Nov; 118(5):697-709. PubMed ID: 19466433
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
    Negishi Y; Hattori A; Takeshita E; Sakai C; Ando N; Ito T; Goto Y; Saitoh S
    J Hum Genet; 2014 Jul; 59(7):405-7. PubMed ID: 24830958
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.
    Petruzzella V; Di Giacinto G; Scacco S; Piemonte F; Torraco A; Carrozzo R; Vergari R; Dionisi-Vici C; Longo D; Tessa A; Papa S; Bertini E
    Neurology; 2003 Oct; 61(7):1017-8. PubMed ID: 14557590
    [No Abstract]   [Full Text] [Related]  

  • 37. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
    Bénit P; Slama A; Cartault F; Giurgea I; Chretien D; Lebon S; Marsac C; Munnich A; Rötig A; Rustin P
    J Med Genet; 2004 Jan; 41(1):14-7. PubMed ID: 14729820
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
    Pelnena D; Burnyte B; Jankevics E; Lace B; Dagyte E; Grigalioniene K; Utkus A; Krumina Z; Rozentale J; Adomaitiene I; Stavusis J; Pliss L; Inashkina I
    Mitochondrial DNA A DNA Mapp Seq Anal; 2018 Oct; 29(7):1115-1120. PubMed ID: 29228836
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
    David J; Okiro JO; Murphy K; Elamin M
    BMJ Case Rep; 2017 Feb; 2017():. PubMed ID: 28242802
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
    Sarzi E; Brown MD; Lebon S; Chretien D; Munnich A; Rotig A; Procaccio V
    Am J Med Genet A; 2007 Jan; 143A(1):33-41. PubMed ID: 17152068
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.