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Mitochondrial diseases associated with cerebral folate deficiency.
Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT. Garcia-Cazorla A, et al. Among authors: nascimento a. Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. Neurology. 2008. PMID: 18413591 No abstract available.
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: nascimento a. Mitochondrion. 2008 Jun;8(3):273-8. doi: 10.1016/j.mito.2008.05.001. Epub 2008 May 21. Mitochondrion. 2008. PMID: 18558519
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A. Navarro-Sastre A, et al. Among authors: nascimento a. Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31. Mol Genet Metab. 2012. PMID: 22980518
[Hypotonia in the neonatal period: 12 years' experience].
Jiménez E, García-Cazorla À, Colomer J, Nascimento A, Iriondo M, Campistol J. Jiménez E, et al. Among authors: nascimento a. Rev Neurol. 2013 Jan 16;56(2):72-8. Rev Neurol. 2013. PMID: 23307352 Free article. Spanish.
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group. Montero R, et al. Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11. Mitochondrion. 2013. PMID: 23583954
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
Kalko SG, Paco S, Jou C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch R, Montero R, Torner F, Nascimento A, Ortez C, Colomer J, Jimenez-Mallebrera C. Kalko SG, et al. Among authors: nascimento a. BMC Genomics. 2014 Feb 1;15:91. doi: 10.1186/1471-2164-15-91. BMC Genomics. 2014. PMID: 24484525 Free PMC article.
1,623 results