BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

400 related articles for article (PubMed ID: 14568816)

  • 1. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
    Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
    Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
    [TBL] [Abstract][Full Text] [Related]  

  • 2. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
    Mancuso M; Ferraris S; Pancrudo J; Feigenbaum A; Raiman J; Christodoulou J; Thorburn DR; DiMauro S
    Arch Neurol; 2005 May; 62(5):745-7. PubMed ID: 15883261
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M; Filosto M; Bonilla E; Hirano M; Shanske S; Vu TH; DiMauro S
    Arch Neurol; 2003 Jul; 60(7):1007-9. PubMed ID: 12873860
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
    Labarthe F; Dobbelaere D; Devisme L; De Muret A; Jardel C; Taanman JW; Gottrand F; Lombès A
    J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
    Freisinger P; Fütterer N; Lankes E; Gempel K; Berger TM; Spalinger J; Hoerbe A; Schwantes C; Lindner M; Santer R; Burdelski M; Schaefer H; Setzer B; Walker UA; Horváth R
    Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
    Rubio JC; Garcia-Consuegra I; Nogales-Gadea G; Blazquez A; Cabello A; Lucia A; Andreu AL; Arenas J; Martin MA
    Hum Mutat; 2007 Feb; 28(2):203-4. PubMed ID: 17221871
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
    Delmont E; Sacconi S; Berge-Lefranc JL; Aquaron R; Butori C; Desnuelle C
    Rev Neurol (Paris); 2008 Nov; 164(11):912-6. PubMed ID: 18808785
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
    Mandel H; Szargel R; Labay V; Elpeleg O; Saada A; Shalata A; Anbinder Y; Berkowitz D; Hartman C; Barak M; Eriksson S; Cohen N
    Nat Genet; 2001 Nov; 29(3):337-41. PubMed ID: 11687800
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
    Maichele AJ; Burwinkel B; Maire I; Søvik O; Kilimann MW
    Nat Genet; 1996 Nov; 14(3):337-40. PubMed ID: 8896567
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
    Slama A; Giurgea I; Debrey D; Bridoux D; de Lonlay P; Levy P; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
    Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
    Nogales-Gadea G; Pinós T; Lucia A; Arenas J; Camara Y; Brull A; de Luna N; Martín MA; Garcia-Arumí E; Martí R; Andreu AL
    Brain; 2012 Jul; 135(Pt 7):2048-57. PubMed ID: 22730558
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
    Kiliç M; Sivri HS; Dursun A; Tokatli A; De Meirleir L; Seneca S; Akçören Z; Yiğit S; Topaloğlu H; Coşkun T
    Turk J Pediatr; 2011; 53(1):79-82. PubMed ID: 21534344
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.
    Deschauer M; Hertel K; Zierz S
    Muscle Nerve; 2003 Jan; 27(1):105-7. PubMed ID: 12508303
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
    Götz A; Isohanni P; Pihko H; Paetau A; Herva R; Saarenpää-Heikkilä O; Valanne L; Marjavaara S; Suomalainen A
    Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency.
    Bührer C; van Landeghem F; Brück W; Felderhoff-Müser U; Vorgerd M; Obladen M
    Neuropediatrics; 2000 Apr; 31(2):104-6. PubMed ID: 10832587
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
    Dimmock DP; Zhang Q; Dionisi-Vici C; Carrozzo R; Shieh J; Tang LY; Truong C; Schmitt E; Sifry-Platt M; Lucioli S; Santorelli FM; Ficicioglu CH; Rodriguez M; Wierenga K; Enns GM; Longo N; Lipson MH; Vallance H; Craigen WJ; Scaglia F; Wong LJ
    Hum Mutat; 2008 Feb; 29(2):330-1. PubMed ID: 18205204
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
    Taanman JW; Kateeb I; Muntau AC; Jaksch M; Cohen N; Mandel H
    Ann Neurol; 2002 Aug; 52(2):237-9. PubMed ID: 12210798
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
    Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
    Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.
    Quintans B; Sanchez-Andrade A; Teijeira S; Fernandez-Hojas R; Rivas E; López MJ; Navarro C
    Arch Neurol; 2004 Jul; 61(7):1108-10. PubMed ID: 15262743
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation analysis in 16 patients with mtDNA depletion.
    Carrozzo R; Bornstein B; Lucioli S; Campos Y; de la Pena P; Petit N; Dionisi-Vici C; Vilarinho L; Rizza T; Bertini E; Garesse R; Santorelli FM; Arenas J
    Hum Mutat; 2003 Apr; 21(4):453-4. PubMed ID: 12655576
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.