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Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA. Perez Maturo J, et al. Among authors: cordoba m. J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3. J Hum Genet. 2020. PMID: 32488064
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
Nemirovsky SI, Córdoba M, Zaiat JJ, Completa SP, Vega PA, González-Morón D, Medina NM, Fabbro M, Romero S, Brun B, Revale S, Ogara MF, Pecci A, Marti M, Vazquez M, Turjanski A, Kauffman MA. Nemirovsky SI, et al. Among authors: cordoba m. PLoS One. 2015 Feb 3;10(2):e0116358. doi: 10.1371/journal.pone.0116358. eCollection 2015. PLoS One. 2015. PMID: 25646853 Free PMC article.
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
González-Morón D, Vishnopolska S, Consalvo D, Medina N, Marti M, Córdoba M, Vazquez-Dusefante C, Claverie S, Rodríguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA. González-Morón D, et al. Among authors: cordoba m. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017. PLoS One. 2017. PMID: 28953922 Free PMC article.
Timely diagnosis of Wilson's disease using whole exome sequencing.
Rodríguez-Quiroga SA, Rosales J, Arakaki T, Cordoba M, González-Morón D, Medina N, Garretto NS, Kauffman MA. Rodríguez-Quiroga SA, et al. Among authors: cordoba m. Parkinsonism Relat Disord. 2015 Nov;21(11):1375-7. doi: 10.1016/j.parkreldis.2015.09.031. Epub 2015 Sep 25. Parkinsonism Relat Disord. 2015. PMID: 26410678 No abstract available.
A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene expression levels.
Casalia ML, Casabona JC, García C, Cavaliere Candedo V, Quintá HR, Farías MI, Gonzalez J, Gonzalez Morón D, Córdoba M, Consalvo D, Mostoslavsky G, Urbano FJ, Pasquini J, Murer MG, Rela L, Kauffman MA, Pitossi FJ. Casalia ML, et al. Among authors: cordoba m. Stem Cell Res Ther. 2021 Nov 25;12(1):590. doi: 10.1186/s13287-021-02658-2. Stem Cell Res Ther. 2021. PMID: 34823607 Free PMC article.
343 results