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PUBMED FOR HANDHELDS

Journal Abstract Search

231 related items for PubMed ID: 16116126

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  • 2. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
    Rötig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, Edery P, Lebideau M, Dallner G, Munnich A, Ernster L, Rustin P.
    Lancet; 2000 Jul 29; 356(9227):391-5. PubMed ID: 10972372
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  • 3. Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency.
    García-Corzo L, Luna-Sánchez M, Doerrier C, Ortiz F, Escames G, Acuña-Castroviejo D, López LC.
    Biochim Biophys Acta; 2014 Jul 29; 1842(7):893-901. PubMed ID: 24576561
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  • 4. Cerebellar ataxia and coenzyme Q10 deficiency.
    Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S.
    Neurology; 2003 Apr 08; 60(7):1206-8. PubMed ID: 12682339
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  • 7. The dilemma of diagnosing coenzyme Q10 deficiency in muscle.
    Louw R, Smuts I, Wilsenach KL, Jonck LM, Schoonen M, van der Westhuizen FH.
    Mol Genet Metab; 2018 Sep 08; 125(1-2):38-43. PubMed ID: 29530532
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  • 8. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.
    Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini FR, Ferrante P, Canal N, Naini A, Bresolin N, DiMauro S.
    Neurology; 2004 Mar 09; 62(5):818-20. PubMed ID: 15007142
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  • 10. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.
    Fragaki K, Chaussenot A, Benoist JF, Ait-El-Mkadem S, Bannwarth S, Rouzier C, Cochaud C, Paquis-Flucklinger V.
    Biol Res; 2016 Jan 08; 49():4. PubMed ID: 26742794
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  • 12. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
    Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L.
    Eur J Paediatr Neurol; 2013 Nov 08; 17(6):625-30. PubMed ID: 23816342
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  • 13. Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.
    Aeby A, Sznajer Y, Cavé H, Rebuffat E, Van Coster R, Rigal O, Van Bogaert P.
    J Inherit Metab Dis; 2007 Oct 08; 30(5):827. PubMed ID: 17703371
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  • 14. [Ubiquinone: metabolism and functions. Ubiquinone deficiency and its implication in mitochondrial encephalopathies. Treatment with ubiquinone].
    Artuch R, Colomé C, Vilaseca MA, Pineda M, Campistol J.
    Rev Neurol; 2007 Oct 08; 29(1):59-63. PubMed ID: 10528314
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  • 17. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
    Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y.
    Hum Mutat; 2018 Jan 08; 39(1):69-79. PubMed ID: 29044765
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