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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: nascimento a. J Clin Med. 2019 Jan 10;8(1):68. doi: 10.3390/jcm8010068. J Clin Med. 2019. PMID: 30634555 Free PMC 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: 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
Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.
Paco S, Ferrer I, Jou C, Cusí V, Corbera J, Torner F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento A, Jimenez-Mallebrera C. Paco S, et al. Among authors: nascimento a. J Neuropathol Exp Neurol. 2012 Oct;71(10):894-906. doi: 10.1097/NEN.0b013e31826c6f7b. J Neuropathol Exp Neurol. 2012. PMID: 22975586
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
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P. Juan-Mateu J, et al. Among authors: nascimento a. Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Orphanet J Rare Dis. 2012. PMID: 23092449 Free PMC article.
[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.
1,528 results