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Page 1
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. Among authors: ballesteros simarro m. 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
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. Navas P, et al. Among authors: ballesteros simarro m. Biofactors. 2021 Jul;47(4):551-569. doi: 10.1002/biof.1733. Epub 2021 Apr 20. Biofactors. 2021. PMID: 33878238 Review.