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Page 1
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Among authors: del mar o callaghan m. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
del Mar O'Callaghan M, Emperador S, López-Gallardo E, Jou C, Buján N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch R, Montoya J. del Mar O'Callaghan M, et al. Neurogenetics. 2012 Aug;13(3):245-50. doi: 10.1007/s10048-012-0322-0. Epub 2012 May 26. Neurogenetics. 2012. PMID: 22638997
Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up.
Paredes-Fuentes AJ, Cesar S, Montero R, Latre C, Genovès J, Martorell L, Cuadras D, Colom H, Pineda M, Del Mar O'Callaghan M, Sarquella-Brugada G, Darling A, Artuch R. Paredes-Fuentes AJ, et al. Among authors: del mar o callaghan m. Biomed Pharmacother. 2021 Nov;143:112143. doi: 10.1016/j.biopha.2021.112143. Epub 2021 Sep 8. Biomed Pharmacother. 2021. PMID: 34507114 Free article.
Selective elimination of mitochondrial mutations in the germline by genome editing.
Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, Del Mar O'Callaghan M, Campistol J, Zhao H, Campistol JM, Moraes CT, Izpisua Belmonte JC. Reddy P, et al. Among authors: del mar o callaghan m. Cell. 2015 Apr 23;161(3):459-469. doi: 10.1016/j.cell.2015.03.051. Cell. 2015. PMID: 25910206 Free PMC article.
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