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2014 2
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57 results

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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: yubero d. 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
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: yubero d. Eur J Hum Genet. 2025 Mar;33(2):239-247. doi: 10.1038/s41431-024-01699-4. Epub 2024 Sep 27. Eur J Hum Genet. 2025. PMID: 39333429
Woolly hair in tricho-dento-osseous syndrome.
Perandones-González H, Rusiñol-Batlle L, Bosquez D, Brunet-Llobet L, Ivars M, Yubero D, Sarig O, Malki L, Peled A, Sprecher E, Baselga E. Perandones-González H, et al. Among authors: yubero d. Pediatr Dermatol. 2023 Nov-Dec;40(6):1094-1096. doi: 10.1111/pde.15309. Epub 2023 Mar 27. Pediatr Dermatol. 2023. PMID: 36973173
Molecular diagnosis of coenzyme Q10 deficiency.
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Expert Rev Mol Diagn. 2015. PMID: 26144946 Review.
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero D, Codina A, Ortez C, Medina J, DeSena DeCabo L, Carrera-García L, Expósito-Escudero J, Jou C, Tizzano EF, Nascimento A, Natera-de Benito D. Pérez-Vidarte F, et al. Among authors: yubero d. Ann Clin Transl Neurol. 2025 Aug;12(8):1528-1547. doi: 10.1002/acn3.70088. Epub 2025 May 29. Ann Clin Transl Neurol. 2025. PMID: 40443119 Free PMC article.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.
Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez C, Expósito-Escudero J, Yubero D, Muchart J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero L, Bönnemann CG, Nascimento A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D, Palau F. Estévez-Arias B, et al. Among authors: yubero d. Ann Neurol. 2025 Aug 15. doi: 10.1002/ana.78005. Online ahead of print. Ann Neurol. 2025. PMID: 40814755
Molecular diagnosis of coenzyme Q10 deficiency: an update.
Yubero D, Montero R, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Expert Rev Mol Diagn. 2018 Jun;18(6):491-498. doi: 10.1080/14737159.2018.1478290. Epub 2018 May 30. Expert Rev Mol Diagn. 2018. PMID: 29781757 Review.
Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.
Minguez B, de Los Santos M, Garcia-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva C, Arias A, Rodriguez-Gonzalez H, Yubero D, Tondo M, Santos-Ocaña C, Meavilla S, Artuch R. Minguez B, et al. Among authors: yubero d. Antioxidants (Basel). 2024 Aug 9;13(8):966. doi: 10.3390/antiox13080966. Antioxidants (Basel). 2024. PMID: 39199213 Free PMC article.
NGS for Metabolic Disease Diagnosis.
Yubero D, Artuch R. Yubero D, et al. EJIFCC. 2018 Nov 7;29(3):227-229. eCollection 2018 Nov. EJIFCC. 2018. PMID: 30479609 Free PMC article. No abstract available.
57 results