BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

671 related articles for article (PubMed ID: 23423671)

  • 1. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
    Gerards M; Kamps R; van Oevelen J; Boesten I; Jongen E; de Koning B; Scholte HR; de Angst I; Schoonderwoerd K; Sefiani A; Ratbi I; Coppieters W; Karim L; de Coo R; van den Bosch B; Smeets H
    Brain; 2013 Mar; 136(Pt 3):882-90. PubMed ID: 23423671
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
    Kevelam SH; Bugiani M; Salomons GS; Feigenbaum A; Blaser S; Prasad C; Häberle J; Baric I; Bakker IM; Postma NL; Kanhai WA; Wolf NI; Abbink TE; Waisfisz Q; Heutink P; van der Knaap MS
    Brain; 2013 May; 136(Pt 5):1534-43. PubMed ID: 23482991
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
    Ortigoza-Escobar JD; Molero-Luis M; Arias A; Oyarzabal A; Darín N; Serrano M; Garcia-Cazorla A; Tondo M; Hernández M; Garcia-Villoria J; Casado M; Gort L; Mayr JA; Rodríguez-Pombo P; Ribes A; Artuch R; Pérez-Dueñas B
    Brain; 2016 Jan; 139(Pt 1):31-8. PubMed ID: 26657515
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
    Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR
    Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.
    Vernau KM; Runstadler JA; Brown EA; Cameron JM; Huson HJ; Higgins RJ; Ackerley C; Sturges BK; Dickinson PJ; Puschner B; Giulivi C; Shelton GD; Robinson BH; DiMauro S; Bollen AW; Bannasch DL
    PLoS One; 2013; 8(3):e57195. PubMed ID: 23469184
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.
    Li D; Song J; Li X; Liu Y; Dong H; Kang L; Liu Y; Zhang Y; Jin Y; Guan H; Zhou C; Yang Y
    Eur J Med Genet; 2020 Oct; 63(10):104003. PubMed ID: 32679198
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
    Haack TB; Klee D; Strom TM; Mayatepek E; Meitinger T; Prokisch H; Distelmaier F
    Brain; 2014 Sep; 137(Pt 9):e295. PubMed ID: 24878502
    [No Abstract]   [Full Text] [Related]  

  • 8. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
    Haack TB; Gorza M; Danhauser K; Mayr JA; Haberberger B; Wieland T; Kremer L; Strecker V; Graf E; Memari Y; Ahting U; Kopajtich R; Wortmann SB; Rodenburg RJ; Kotzaeridou U; Hoffmann GF; Sperl W; Wittig I; Wilichowski E; Schottmann G; Schuelke M; Plecko B; Stephani U; Strom TM; Meitinger T; Prokisch H; Freisinger P
    Mol Genet Metab; 2014 Mar; 111(3):342-352. PubMed ID: 24461907
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
    van der Knaap MS; Kevelam SH
    Brain; 2014 Sep; 137(Pt 9):e297. PubMed ID: 24878500
    [No Abstract]   [Full Text] [Related]  

  • 10. Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
    Kamaşak T; Havalı C; İnce H; Eyüboğlu İ; Çebi AH; Sahin S; Cansu A; Aydin K
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1139-1149. PubMed ID: 30054086
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
    Gerards M; Sluiter W; van den Bosch BJ; de Wit LE; Calis CM; Frentzen M; Akbari H; Schoonderwoerd K; Scholte HR; Jongbloed RJ; Hendrickx AT; de Coo IF; Smeets HJ
    J Med Genet; 2010 Aug; 47(8):507-12. PubMed ID: 19542079
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
    Sonam K; Khan NA; Bindu PS; Taly AB; Gayathri N; Bharath MM; Govindaraju C; Arvinda HR; Nagappa M; Sinha S; Thangaraj K
    Brain Dev; 2014 Oct; 36(9):807-12. PubMed ID: 24262866
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
    Lee JS; Yoo T; Lee M; Lee Y; Jeon E; Kim SY; Lim BC; Kim KJ; Choi M; Chae JH
    Clin Genet; 2020 Apr; 97(4):586-594. PubMed ID: 32020600
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
    Flønes I; Sztromwasser P; Haugarvoll K; Dölle C; Lykouri M; Schwarzlmüller T; Jonassen I; Miletic H; Johansson S; Knappskog PM; Bindoff LA; Tzoulis C
    PLoS One; 2016; 11(2):e0149055. PubMed ID: 26863430
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
    Gerards M; Sallevelt SC; Smeets HJ
    Mol Genet Metab; 2016 Mar; 117(3):300-12. PubMed ID: 26725255
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.
    Soler-Alfonso C; Enns GM; Koenig MK; Saavedra H; Bonfante-Mejia E; Northrup H
    Pediatr Neurol; 2015 Mar; 52(3):361-5. PubMed ID: 25591832
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.
    Algahtani H; Ghamdi S; Shirah B; Alharbi B; Algahtani R; Bazaid A
    Neurol Res; 2017 Feb; 39(2):117-125. PubMed ID: 27905264
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
    Sun D; Liu Z; Liu Y; Wu M; Fang F; Deng X; Liu Z; Song L; Murayama K; Zhang C; Zhu Y
    BMC Med Genet; 2020 Jul; 21(1):149. PubMed ID: 32677908
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Drögemüller M; Letko A; Matiasek K; Jagannathan V; Corlazzoli D; Rosati M; Jurina K; Medl S; Gödde T; Rupp S; Fischer A; Luján Feliu-Pascual A; Drögemüller C
    Genes (Basel); 2020 Oct; 11(10):. PubMed ID: 33081289
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
    Danis D; Brennerova K; Skopkova M; Kurdiova T; Ukropec J; Stanik J; Kolnikova M; Gasperikova D
    Endocr Regul; 2018 Apr; 52(2):110-118. PubMed ID: 29715184
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 34.