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Page 1
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Salviati L, et al. Among authors: rodriguez hernandez ma. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
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. Desbats MA, et al. Among authors: rodriguez hernandez ma. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero D, Montero R, Pineda M, O'Callaghan MM, Alcázar-Fabra M, Salviati L, Artuch R, Navas P. Asencio C, et al. Among authors: rodriguez hernandez ma. Eur J Hum Genet. 2016 Mar;24(3):367-72. doi: 10.1038/ejhg.2015.112. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014431 Free PMC article.
The CoQH2/CoQ Ratio Serves as a Sensor of Respiratory Chain Efficiency.
Guarás A, Perales-Clemente E, Calvo E, Acín-Pérez R, Loureiro-Lopez M, Pujol C, Martínez-Carrascoso I, Nuñez E, García-Marqués F, Rodríguez-Hernández MA, Cortés A, Diaz F, Pérez-Martos A, Moraes CT, Fernández-Silva P, Trifunovic A, Navas P, Vazquez J, Enríquez JA. Guarás A, et al. Among authors: rodriguez hernandez ma. Cell Rep. 2016 Apr 5;15(1):197-209. doi: 10.1016/j.celrep.2016.03.009. Epub 2016 Mar 24. Cell Rep. 2016. PMID: 27052170 Free article.
Supercomplex assembly determines electron flux in the mitochondrial electron transport chain.
Lapuente-Brun E, Moreno-Loshuertos R, Acín-Pérez R, Latorre-Pellicer A, Colás C, Balsa E, Perales-Clemente E, Quirós PM, Calvo E, Rodríguez-Hernández MA, Navas P, Cruz R, Carracedo Á, López-Otín C, Pérez-Martos A, Fernández-Silva P, Fernández-Vizarra E, Enríquez JA. Lapuente-Brun E, et al. Among authors: rodriguez hernandez ma. Science. 2013 Jun 28;340(6140):1567-70. doi: 10.1126/science.1230381. Science. 2013. PMID: 23812712
[Molecular studies in Cuban patients with progressive external ophthalmoplegia].
Rodríguez-Hernández M, Hirano M, Arrieta T, Lestayo Z, Estrada R, Santiesteban R, Guerra-Badía R, Galarraga J, Gutierres J, Hechevarría E, Andreu A, Montoya J, DiMauro S. Rodríguez-Hernández M, et al. Rev Neurol. 2000 Jun 1-15;30(11):1001-5. Rev Neurol. 2000. PMID: 10904941 Spanish.
[Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba].
Santiesteban-Freixas R, Rodríguez-Hernández M, Mendoza-Santiesteban CE, Carrero-Salgado M, Francisco-Plasencia M, Méndez-Larramendi I, Vidal-Casalís S, Rivero-Reyes R, Hirano M. Santiesteban-Freixas R, et al. Rev Neurol. 1999 Sep 1-15;29(5):408-15. Rev Neurol. 1999. PMID: 10584242 Review. Spanish.
30 results