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756 results

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Page 1
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.
Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A. Ortez C, et al. Among authors: pineda m. Mol Genet Metab. 2015 Jan;114(1):34-40. doi: 10.1016/j.ymgme.2014.10.014. Epub 2014 Oct 31. Mol Genet Metab. 2015. PMID: 25468651 Free 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
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.
Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan Mdel M, Quijada P, Martinez-Aragón A, Ormazábal A, Blázquez A, Martín MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch R, Pineda M. Serrano M, et al. Among authors: pineda m. Mitochondrion. 2010 Aug;10(5):429-32. doi: 10.1016/j.mito.2010.04.001. Epub 2010 Apr 11. Mitochondrion. 2010. PMID: 20388557
Secondary abnormalities of neurotransmitters in infants with neurological disorders.
García-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazábal A, Pineda M, Fernández-Alvarez E, Campistol JM, Artuch RM. García-Cazorla A, et al. Among authors: pineda m. Dev Med Child Neurol. 2007 Oct;49(10):740-4. doi: 10.1111/j.1469-8749.2007.00740.x. Dev Med Child Neurol. 2007. PMID: 17880642 Free article.
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: pineda m. Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. Neurology. 2008. PMID: 18413591 No abstract available.
Hypokinetic-rigid syndrome in children and inborn errors of metabolism.
García-Cazorla A, Ortez C, Pérez-Dueñas B, Serrano M, Pineda M, Campistol J, Fernández-Álvarez E. García-Cazorla A, et al. Among authors: pineda m. Eur J Paediatr Neurol. 2011 Jul;15(4):295-302. doi: 10.1016/j.ejpn.2011.04.013. Epub 2011 May 25. Eur J Paediatr Neurol. 2011. PMID: 21612960 Review.
756 results