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Journal Abstract Search

272 related items for PubMed ID: 33215859

  • 1. Clinical spectrum in multiple families with primary COQ10 deficiency.
    Hashemi SS, Zare-Abdollahi D, Bakhshandeh MK, Vafaee A, Abolhasani S, Inanloo Rahatloo K, DanaeeFard F, Farboodi N, Rohani M, Alavi A.
    Am J Med Genet A; 2021 Feb; 185(2):440-452. PubMed ID: 33215859
    [Abstract] [Full Text] [Related]

  • 2. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
    Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D.
    Am J Hum Genet; 2015 Feb 05; 96(2):309-17. PubMed ID: 25658047
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  • 3. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.
    Romero-Moya D, Santos-Ocaña C, Castaño J, Garrabou G, Rodríguez-Gómez JA, Ruiz-Bonilla V, Bueno C, González-Rodríguez P, Giorgetti A, Perdiguero E, Prieto C, Moren-Nuñez C, Fernández-Ayala DJ, Victoria Cascajo M, Velasco I, Canals JM, Montero R, Yubero D, Jou C, López-Barneo J, Cardellach F, Muñoz-Cánoves P, Artuch R, Navas P, Menendez P.
    Stem Cells; 2017 Jul 05; 35(7):1687-1703. PubMed ID: 28472853
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  • 4. 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 05; 17(6):625-30. PubMed ID: 23816342
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  • 5. Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.
    Navas P, Cascajo MV, Alcázar-Fabra M, Hernández-Camacho JD, Sánchez-Cuesta A, Rodríguez ABC, Ballesteros-Simarro M, Arroyo-Luque A, Rodríguez-Aguilera JC, Fernández-Ayala DJM, Brea-Calvo G, López-Lluch G, Santos-Ocaña C.
    Biofactors; 2021 Jul 05; 47(4):551-569. PubMed ID: 33878238
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  • 6. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
    Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L.
    Eur J Hum Genet; 2015 Sep 05; 23(9):1254-8. PubMed ID: 25564041
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  • 7. COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
    Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C.
    Eur J Hum Genet; 2024 Aug 05; 32(8):938-946. PubMed ID: 38702428
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  • 8. Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
    Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, Assaf N, Segal I, Abed El Rahim H, Shapira H, Urian D, Tzur S, Douiev L, Saada A.
    Neurochem Res; 2019 Oct 05; 44(10):2372-2384. PubMed ID: 30968303
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  • 10. Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
    Hsu CJ, Lee WT.
    Epilepsy Behav; 2023 Dec 05; 149():109498. PubMed ID: 37948995
    [Abstract] [Full Text] [Related]

  • 11. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.
    Eroglu FK, Ozaltin F, Gönç N, Nalçacıoğlu H, Özçakar ZB, Yalnızoğlu D, Güçer Ş, Orhan D, Eminoğlu FT, Göçmen R, Alikaşifoğlu A, Topaloğlu R, Düzova A.
    Pediatr Neurol; 2018 Nov 05; 88():71-74. PubMed ID: 30337132
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  • 12. A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
    Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV, Care4Rare Canada Consortium, Rodenburg RJ, Boycott KM, Penney LS.
    J Inherit Metab Dis; 2018 Jul 05; 41(4):719-729. PubMed ID: 29560582
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  • 13. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
    Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C.
    Pediatr Nephrol; 2018 Jul 05; 33(7):1257-1261. PubMed ID: 29637272
    [Abstract] [Full Text] [Related]

  • 14. The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
    Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E.
    Hum Mol Genet; 2016 Oct 01; 25(19):4256-4265. PubMed ID: 27493029
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  • 18. Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
    Nardecchia F, De Giorgi A, Palombo F, Fiorini C, De Negri AM, Carelli V, Caporali L, Leuzzi V.
    Ann Clin Transl Neurol; 2021 Jan 01; 8(1):247-251. PubMed ID: 33285023
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  • 19. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
    Barca E, Musumeci O, Montagnese F, Marino S, Granata F, Nunnari D, Peverelli L, DiMauro S, Quinzii CM, Toscano A.
    Clin Genet; 2016 Aug 01; 90(2):156-60. PubMed ID: 26818466
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  • 20. A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4.
    Liu G, Ma D, Li J, Luo C, Sun Y, Zhang J, Hu P, Tang W, Xu Z.
    Clin Biochem; 2020 Oct 01; 84():93-98. PubMed ID: 32553579
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