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Journal Abstract Search

409 related items for PubMed ID: 19162478

  • 1. Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
    Blázquez A, Gil-Borlado MC, Morán M, Verdú A, Cazorla-Calleja MR, Martín MA, Arenas J, Ugalde C.
    Neuromuscul Disord; 2009 Feb; 19(2):143-6. PubMed ID: 19162478
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  • 2. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
    Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE.
    N Engl J Med; 2007 Feb 22; 356(8):809-19. PubMed ID: 17314340
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  • 6. A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
    Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W.
    Neuromuscul Disord; 2006 Dec 22; 16(12):874-7. PubMed ID: 17056256
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  • 11. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
    Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, Oldfors A, Holme E.
    Neuromuscul Disord; 2009 Feb 22; 19(2):147-50. PubMed ID: 19138848
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  • 12. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
    Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA.
    Hum Mol Genet; 2019 Nov 15; 28(22):3766-3776. PubMed ID: 31435670
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  • 13. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
    Haut S, de Villemeur TB, Brivet M, Guiochon-Mantel A, Boutron A, Rustin P, Legrand A, Slama A.
    Eur J Hum Genet; 2004 Mar 15; 12(3):220-4. PubMed ID: 14735157
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  • 18. A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
    Coulbault L, Herlicoviez D, Chapon F, Read MH, Penniello MJ, Reynier P, Fayet G, Lombès A, Jauzac P, Allouche S.
    Biochem Biophys Res Commun; 2005 Apr 15; 329(3):1152-4. PubMed ID: 15752774
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  • 19. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.
    Kotarsky H, Karikoski R, Mörgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman V.
    Mitochondrion; 2010 Aug 15; 10(5):497-509. PubMed ID: 20580947
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  • 20. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
    Lesko N, Naess K, Wibom R, Solaroli N, Nennesmo I, von Döbeln U, Karlsson A, Larsson NG.
    Neuromuscul Disord; 2010 Mar 15; 20(3):198-203. PubMed ID: 20083405
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