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New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S, Paredes-Fuentes AJ, Badosa C, Codina A, Montoya J, Ruiz-Pesini E, Jou C, Garrabou G, Grau-Junyent JM, Yubero D, Montero R, Muchart J, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Català A, Garcia-Cazorla À, Jimenez-Mallebrera C, Artuch R. Trifunov S, et al. Clin Chem. 2021 Aug 5;67(8):1113-1121. doi: 10.1093/clinchem/hvab091. Clin Chem. 2021. PMID: 34352085
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples.
Paredes-Fuentes AJ, Montero R, Codina A, Jou C, Fernández G, Maynou J, Santos-Ocaña C, Riera J, Navas P, Drobnic F, Artuch R. Paredes-Fuentes AJ, et al. Antioxidants (Basel). 2020 Oct 13;9(10):979. doi: 10.3390/antiox9100979. Antioxidants (Basel). 2020. PMID: 33066002 Free PMC article.