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Page 1
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: yubero d. Pediatr Neurol. 2021 Feb;115:50-65. doi: 10.1016/j.pediatrneurol.2020.11.002. Epub 2020 Nov 5. Pediatr Neurol. 2021. PMID: 33333461
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
Yubero D, O'Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P, Artuch R. Yubero D, et al. BMC Pediatr. 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5. BMC Pediatr. 2014. PMID: 25381171 Free PMC article.
Mutation loads in different tissues from six pathogenic mtDNA point mutations.
O'Callaghan MM, Emperador S, Pineda M, López-Gallardo E, Montero R, Yubero D, Jou C, Jimenez-Mallebrera C, Nascimento A, Ferrer I, García-Cazorla A, Ruiz-Pesini E, Montoya J, Artuch R. O'Callaghan MM, et al. Among authors: yubero d. Mitochondrion. 2015 May;22:17-22. doi: 10.1016/j.mito.2015.03.001. Epub 2015 Mar 10. Mitochondrion. 2015. PMID: 25765153
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.
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.
Montero R, Yubero D, Villarroya J, Henares D, Jou C, Rodríguez MA, Ramos F, Nascimento A, Ortez CI, Campistol J, Perez-Dueñas B, O'Callaghan M, Pineda M, Garcia-Cazorla A, Oferil JC, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya F, Artuch R, Jimenez-Mallebrera C. Montero R, et al. Among authors: yubero d. PLoS One. 2016 Feb 11;11(2):e0148709. doi: 10.1371/journal.pone.0148709. eCollection 2016. PLoS One. 2016. PMID: 26867126 Free PMC article.
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla À, Pérez-Dueñas B, Campistol J, Ribes A, Palau F, Artuch R, Armstrong J; Working Group. Yubero D, et al. PLoS One. 2016 May 31;11(5):e0156359. doi: 10.1371/journal.pone.0156359. eCollection 2016. PLoS One. 2016. PMID: 27243974 Free PMC article.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E, Molero-Luis M, Cuadras D, Casado M, Armstrong-Morón J, Yubero D, Montoya J, Artuch R, García-Cazorla À; Institut De Recerca Sant Joan De Déu Working Group. Cortès-Saladelafont E, et al. Among authors: yubero d. Dev Med Child Neurol. 2018 Aug;60(8):780-792. doi: 10.1111/dmcn.13746. Epub 2018 Mar 25. Dev Med Child Neurol. 2018. PMID: 29577258 Free article.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R. Batllori M, et al. Among authors: yubero d. J Inherit Metab Dis. 2018 Nov;41(6):1147-1158. doi: 10.1007/s10545-018-0224-x. Epub 2018 Jul 4. J Inherit Metab Dis. 2018. PMID: 29974349
54 results