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    Results: 1 to 20 of 30

    1.

    A functionally dominant mitochondrial DNA mutation.

    Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM.

    Hum Mol Genet. 2008 Jun 15;17(12):1814-20. Epub 2008 Mar 12.

    PMID:
    18337306
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.

    Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, Mariman E, van den Heuvel LP, Wendel U, Koch G, Smeitink JA.

    Neuropediatrics. 2001 Aug;32(4):183-90. Review.

    PMID:
    11571698
    [PubMed - indexed for MEDLINE]
    4.

    Final Report on Carcinogens Background Document for Formaldehyde.

    National Toxicology Program.

    Rep Carcinog Backgr Doc. 2010 Jan;(10-5981):i-512.

    PMID:
    20737003
    [PubMed - as supplied by publisher]
    5.

    A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.

    Kleinle S, Schneider V, Moosmann P, Brandner S, Krähenbühl S, Liechti-Gallati S.

    Biochem Biophys Res Commun. 1998 Jun 9;247(1):112-5.

    PMID:
    9636664
    [PubMed - indexed for MEDLINE]
    6.

    Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

    Ballhausen D, Guerry F, Hahn D, Schaller A, Nuoffer JM, Bonafé L, Jeannet PY, Jacquemont S.

    J Inherit Metab Dis. 2010 May 11. [Epub ahead of print]

    PMID:
    20458543
    [PubMed - as supplied by publisher]
    7.

    A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

    Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E.

    Eur J Paediatr Neurol. 2010 May;14(3):253-60. Epub 2009 Oct 29.

    PMID:
    19879173
    [PubMed - indexed for MEDLINE]
    8.

    A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

    Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM.

    J Am Coll Cardiol. 2003 May 21;41(10):1786-96.

    PMID:
    12767666
    [PubMed - indexed for MEDLINE]
    9.

    Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).

    De Kremer RD, Paschini-Capra A, Bacman S, Argaraña C, Civallero G, Kelley RI, Guelbert N, Latini A, de Halac IN, Giner-Ayala A, Johnston J, Proujansky R, Gonzalez I, Depetris-Boldini C, Oller-Ramírez A, Angaroni C, Theaux RA, Hliba E, Juaneda E.

    Am J Med Genet. 2001 Mar 1;99(2):83-93.

    PMID:
    11241464
    [PubMed - indexed for MEDLINE]
    10.

    [Ataxic cerebral palsy and brain imaging].

    Imamura S, Tachi N, Tsuzuki A, Sasaki K, Hirano S, Tanabe C, Sakuma K.

    No To Hattatsu. 1992 Sep;24(5):441-8. Japanese.

    PMID:
    1389327
    [PubMed - indexed for MEDLINE]
    11.

    Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

    Kishnani PS, Van Hove JL, Shoffner JS, Kaufman A, Bossen EH, Kahler SG.

    Eur J Pediatr. 1996 Oct;155(10):898-903.

    PMID:
    8891562
    [PubMed - indexed for MEDLINE]
    12.

    A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

    Wong LJ, Yim D, Bai RK, Kwon H, Vacek MM, Zane J, Hoppel CL, Kerr DS.

    J Med Genet. 2006 Sep;43(9):e46.

    PMID:
    16950817
    [PubMed - indexed for MEDLINE]
    13.

    Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.

    Perucca-Lostanlen D, Taylor RW, Narbonne H, Mousson de Camaret B, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C.

    Biochim Biophys Acta. 2002 Dec 12;1588(3):210-6.

    PMID:
    12393175
    [PubMed - indexed for MEDLINE]
    14.

    Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

    Kornblum C, Zsurka G, Wiesner RJ, Schröder R, Kunz WS.

    Biosci Rep. 2008 Apr;28(2):89-96.

    PMID:
    18384291
    [PubMed - indexed for MEDLINE]
    Free Article
    15.

    Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

    Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG.

    Am J Hum Genet. 2000 Dec;67(6):1400-10. Epub 2000 Oct 20.

    PMID:
    11047755
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A > G).

    Sproule DM, Dyme J, Coku J, de Vinck D, Rosenzweig E, Chung WK, De Vivo DC.

    J Inherit Metab Dis. 2008 Jan 7. [Epub ahead of print]

    PMID:
    18181029
    [PubMed - as supplied by publisher]
    17.

    Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.

    Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C.

    J Neurol Sci. 1992 Mar;108(1):105-13. Review.

    PMID:
    1320661
    [PubMed - indexed for MEDLINE]
    18.

    A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

    Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G.

    Am J Hum Genet. 1999 Sep;65(3):611-20.

    PMID:
    10441567
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

    Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.

    Am J Hum Genet. 2010 Jul 9;87(1):52-9.

    PMID:
    20598274
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

    Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP.

    Am J Med Genet. 1994 Apr 15;50(3):265-71. Review.

    PMID:
    8042671
    [PubMed - indexed for MEDLINE]

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