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 *

393 related articles for article (PubMed ID: 15657614)

  • 1. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
    Blakely EL; de Silva R; King A; Schwarzer V; Harrower T; Dawidek G; Turnbull DM; Taylor RW
    Eur J Hum Genet; 2005 May; 13(5):623-7. PubMed ID: 15657614
    [TBL] [Abstract][Full Text] [Related]  

  • 2. LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.
    Pätsi J; Maliniemi P; Pakanen S; Hinttala R; Uusimaa J; Majamaa K; Nyström T; Kervinen M; Hassinen IE
    Biochim Biophys Acta; 2012 Feb; 1817(2):312-8. PubMed ID: 22079202
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
    Spruijt L; Smeets HJ; Hendrickx A; Bettink-Remeijer MW; Maat-Kievit A; Schoonderwoerd KC; Sluiter W; de Coo IF; Hintzen RQ
    Arch Neurol; 2007 Jun; 64(6):890-3. PubMed ID: 17562939
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.
    Kolarova H; Liskova P; Tesarova M; Kucerova Vidrova V; Forgac M; Zamecnik J; Hansikova H; Honzik T
    Ophthalmic Genet; 2016 Dec; 37(4):419-423. PubMed ID: 26894521
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 23(1):165. PubMed ID: 37095452
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation--case report and literature review.
    Hsieh YT; Yang MT; Peng YJ; Hsu WC
    Ophthalmic Genet; 2011 Mar; 32(1):31-8. PubMed ID: 21174521
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the
    Endres D; Süß P; Maier SJ; Friedel E; Nickel K; Ziegler C; Fiebich BL; Glocker FX; Stock F; Egger K; Lange T; Dacko M; Venhoff N; Erny D; Doostkam S; Komlosi K; Domschke K; Tebartz van Elst L
    Front Immunol; 2019; 10():412. PubMed ID: 30949164
    [No Abstract]   [Full Text] [Related]  

  • 9. The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
    Horváth R; Reilmann R; Holinski-Feder E; Ringelstein EB; Klopstock T
    Neuromuscul Disord; 2008 Jul; 18(7):553-6. PubMed ID: 18590963
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.
    Korkiamäki P; Kervinen M; Karjalainen K; Majamaa K; Uusimaa J; Remes AM
    Acta Ophthalmol; 2013 Nov; 91(7):630-4. PubMed ID: 22970697
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.
    Leng Y; Liu Y; Fang X; Li Y; Yu L; Yuan Y; Wang Z
    Mitochondrial DNA; 2015 Apr; 26(2):208-12. PubMed ID: 24708134
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.
    Leo-Kottler B; Luberichs J; Besch D; Christ-Adler M; Fauser S
    Graefes Arch Clin Exp Ophthalmol; 2002 Sep; 240(9):758-64. PubMed ID: 12271374
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
    Chol M; Lebon S; Bénit P; Chretien D; de Lonlay P; Goldenberg A; Odent S; Hertz-Pannier L; Vincent-Delorme C; Cormier-Daire V; Rustin P; Rötig A; Munnich A
    J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.
    Carreño-Gago L; Gamez J; Cámara Y; Alvarez de la Campa E; Aller-Alvarez JS; Moncho D; Salvado M; Galan A; de la Cruz X; Pinós T; García-Arumí E
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):182-187. PubMed ID: 27613247
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
    Vacchiano V; Caporali L; La Morgia C; Carbonelli M; Amore G; Bartolomei I; Cascavilla ML; Barboni P; Lamperti C; Catania A; Chan JW; Karanja R; Sadun AA; Liguori R; Bianchi A; Gavazzi G; Mascalchi M; Salvi F; Carelli V
    Mitochondrion; 2021 Sep; 60():142-149. PubMed ID: 34390870
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
    Ravn K; Wibrand F; Hansen FJ; Horn N; Rosenberg T; Schwartz M
    Eur J Hum Genet; 2001 Oct; 9(10):805-9. PubMed ID: 11781695
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A patient with two mitochondrial DNA mutations causing PEO and LHON.
    Melberg A; Moslemi AR; Palm O; Raininko R; Stålberg E; Oldfors A
    Eur J Med Genet; 2009; 52(1):47-8. PubMed ID: 19015050
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
    Zhao D; Hong D; Zhang W; Yao S; Qi X; Lv H; Zheng R; Feng L; Huang Y; Yuan Y; Wang Z
    J Hum Genet; 2011 Nov; 56(11):759-64. PubMed ID: 21850008
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Leber Hereditary Optic Neuropathy: Visual Recovery in a Patient With the Rare m.3890G>A Point Mutation.
    Murray JJ; Nolan KW; McClelland C; Lee MS
    J Neuroophthalmol; 2017 Jun; 37(2):166-171. PubMed ID: 27798429
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.
    Howell N; Miller NR; Mackey DA; Arnold A; Herrnstadt C; Williams IM; Kubacka I
    J Neuroophthalmol; 2002 Dec; 22(4):262-9. PubMed ID: 12464729
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.