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Year Number of Results
2010 1
2011 1
2012 1
2015 5
2016 3
2019 3
2020 1
2021 2
2024 0

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15 results

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Page 1
Clinical, etiological and therapeutic aspects of cerebral folate deficiency.
Molero-Luis M, Serrano M, O'Callaghan MM, Sierra C, Pérez-Dueñas B, García-Cazorla A, Artuch R. Molero-Luis M, et al. Among authors: o callaghan mm. Expert Rev Neurother. 2015;15(7):793-802. doi: 10.1586/14737175.2015.1055322. Epub 2015 Jun 19. Expert Rev Neurother. 2015. PMID: 26092490 Review.
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á. Cassis L, et al. Among authors: o callaghan mm. Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Orphanet J Rare Dis. 2015. PMID: 26714856 Free PMC article. Review.
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.
Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R. Pineda M, et al. Among authors: o callaghan mm. Mov Disord. 2010 Jul 15;25(9):1262-8. doi: 10.1002/mds.23129. Mov Disord. 2010. PMID: 20629161 Clinical Trial.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: o callaghan mm. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S, Paredes-Fuentes AJ, Badosa C, Codina A, Montoya J, Ruiz-Pesini E, Jou C, Garrabou G, Grau-Junyent JM, Yubero D, Montero R, Muchart J, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Català A, Garcia-Cazorla À, Jimenez-Mallebrera C, Artuch R. Trifunov S, et al. Among authors: o callaghan mm. Clin Chem. 2021 Aug 5;67(8):1113-1121. doi: 10.1093/clinchem/hvab091. Clin Chem. 2021. PMID: 34352085
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero D, Fernández-Marmiesse A, O'Callaghan MM, Ortigoza-Escobar JD, Iriondo M, Ruiz-Pesini E, García-Cazorla A, Gil-Campos M, Artuch R, Montoya J, Bayona-Bafaluy MP. Emperador S, et al. Among authors: o callaghan mm. Front Genet. 2020 Jan 8;10:1300. doi: 10.3389/fgene.2019.01300. eCollection 2019. Front Genet. 2020. PMID: 31969900 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. Mitochondrion. 2015 May;22:17-22. doi: 10.1016/j.mito.2015.03.001. Epub 2015 Mar 10. Mitochondrion. 2015. PMID: 25765153
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: o callaghan mm. 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: o callaghan mm. 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.
15 results