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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Jou C, et al. Among authors: pineda m. J Clin Med. 2019 Jan 10;8(1):68. doi: 10.3390/jcm8010068. J Clin Med. 2019. PMID: 30634555 Free PMC article.
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero D, Montero R, Pineda M, O'Callaghan MM, Alcázar-Fabra M, Salviati L, Artuch R, Navas P. Asencio C, et al. Among authors: pineda m. Eur J Hum Genet. 2016 Mar;24(3):367-72. doi: 10.1038/ejhg.2015.112. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014431 Free PMC article.
Mitochondrial diseases mimicking neurotransmitter defects.
Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R. Garcia-Cazorla A, et al. Among authors: pineda m. Mitochondrion. 2008 Jun;8(3):273-8. doi: 10.1016/j.mito.2008.05.001. Epub 2008 May 21. Mitochondrion. 2008. PMID: 18558519
Genistein supplementation in patients affected by Sanfilippo disease.
Delgadillo V, O'Callaghan Mdel M, Artuch R, Montero R, Pineda M. Delgadillo V, et al. Among authors: pineda m. J Inherit Metab Dis. 2011 Oct;34(5):1039-44. doi: 10.1007/s10545-011-9342-4. Epub 2011 May 10. J Inherit Metab Dis. 2011. PMID: 21556833 Clinical Trial.
Expanding the clinical phenotypes of MT-ATP6 mutations.
López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch R, Barraquer E, Jericó I, Ruiz-Pesini E, Montoya J. López-Gallardo E, et al. Among authors: pineda m. Hum Mol Genet. 2014 Dec 1;23(23):6191-200. doi: 10.1093/hmg/ddu339. Epub 2014 Jun 30. Hum Mol Genet. 2014. PMID: 24986921
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. Among authors: pineda m. BMC Pediatr. 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5. BMC Pediatr. 2014. PMID: 25381171 Free PMC article.
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: pineda m. PLoS One. 2016 Feb 11;11(2):e0148709. doi: 10.1371/journal.pone.0148709. eCollection 2016. PLoS One. 2016. PMID: 26867126 Free PMC article.
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch R, Roca I, Ruiz-Pesini E, Couce ML, Montoya J. Emperador S, et al. Among authors: pineda m. Eur J Hum Genet. 2016 Jan;25(1):153-156. doi: 10.1038/ejhg.2016.124. Epub 2016 Sep 28. Eur J Hum Genet. 2016. PMID: 27677415 Free PMC article.
741 results