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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
Coenzyme Q at the Hinge of Health and Metabolic Diseases.
Hernández-Camacho JD, García-Corzo L, Fernández-Ayala DJM, Navas P, López-Lluch G. Hernández-Camacho JD, et al. Antioxidants (Basel). 2021 Nov 8;10(11):1785. doi: 10.3390/antiox10111785. Antioxidants (Basel). 2021. PMID: 34829656 Free PMC article. Review.
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C, Cascajo MV, Alcázar-Fabra M, Staiano C, López-Lluch G, Brea-Calvo G, Navas P. Santos-Ocaña C, et al. Int J Mol Sci. 2021 Sep 22;22(19):10211. doi: 10.3390/ijms221910211. Int J Mol Sci. 2021. PMID: 34638552 Free PMC article. Review.
Prenatal and progressive coenzyme Q10 administration to mitigate muscle dysfunction in mitochondrial disease.
Hernández-Camacho JD, Vicente-García C, Ardila-García L, Padilla-Campos A, López-Lluch G, Santos-Ocaña C, Zammit PS, Carvajal JJ, Navas P, Fernández-Ayala DJM. Hernández-Camacho JD, et al. J Cachexia Sarcopenia Muscle. 2024 Dec;15(6):2402-2416. doi: 10.1002/jcsm.13574. Epub 2024 Oct 2. J Cachexia Sarcopenia Muscle. 2024. PMID: 39354863 Free PMC article.