O'Callaghan M - Search Results

1

Vanishing white matter disease in a spanish population.

Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J. Turón-Viñas E, et al. J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68. doi: 10.4137/JCNSD.S13540. eCollection 2014. J Cent Nerv Syst Dis. 2014. PMID: 25089094 Free PMC article. Review.

2

Vanishing white matter disease associated with progressive macrocephaly.

Pineda M, R-Palmero A, Baquero M, O'Callaghan M, Aracil A, van der Knaap M, Scheper GC. Pineda M, et al. Neuropediatrics. 2008 Feb;39(1):29-32. doi: 10.1055/s-2008-1076738. Neuropediatrics. 2008. PMID: 18504679

3

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. Mov Disord. 2010 Jul 15;25(9):1262-8. doi: 10.1002/mds.23129. Mov Disord. 2010. PMID: 20629161 Clinical Trial.

4

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazabal A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M, Artuch R. Tondo M, et al. Mitochondrion. 2011 Nov;11(6):867-70. doi: 10.1016/j.mito.2011.06.009. Epub 2011 Jul 2. Mitochondrion. 2011. PMID: 21745599

5

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R. Quijada-Fraile P, et al. Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2. Orphanet J Rare Dis. 2014. PMID: 25539952 Free PMC article.

6

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan M, Del Toro M. Pintos-Morell G, et al. Mol Genet Metab Rep. 2018 Apr 5;15:116-120. doi: 10.1016/j.ymgmr.2018.03.009. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023300 Free PMC article.

7

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B. Darling A, et al. Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 30340910

8

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Vidal S, Xiol C, Pascual-Alonso A, O'Callaghan M, Pineda M, Armstrong J. Vidal S, et al. Int J Mol Sci. 2019 Aug 12;20(16):3925. doi: 10.3390/ijms20163925. Int J Mol Sci. 2019. PMID: 31409060 Free PMC article. Review.

9

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. Xiol C, et al. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Sci Rep. 2019. PMID: 31427717 Free PMC article.

10

Comprehensive Analysis of GABA_A-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.

Oyarzabal A, Xiol C, Castells AA, Grau C, O'Callaghan M, Fernández G, Alcántara S, Pineda M, Armstrong J, Altafaj X, García-Cazorla A. Oyarzabal A, et al. Int J Mol Sci. 2020 Jan 14;21(2):518. doi: 10.3390/ijms21020518. Int J Mol Sci. 2020. PMID: 31947619 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

635 results

Search Page