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Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.
Cordoba M, Rodriguez-Quiroga S, Gatto EM, Alurralde A, Kauffman MA. Cordoba M, et al. Among authors: kauffman ma. Neurology. 2014 Jul 15;83(3):287-8. doi: 10.1212/WNL.0000000000000600. Epub 2014 Jun 13. Neurology. 2014. PMID: 24928119 No abstract available.
Huntington's disease masquerading as spinocerebellar ataxia.
Rodríguez-Quiroga SA, Gonzalez-Morón D, Garretto N, Kauffman MA. Rodríguez-Quiroga SA, et al. Among authors: kauffman ma. BMJ Case Rep. 2013 Jul 12;2013:bcr2012008380. doi: 10.1136/bcr-2012-008380. BMJ Case Rep. 2013. PMID: 23853009 Free PMC article.
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: kauffman ma. PLoS One. 2015 Feb 3;10(2):e0116358. doi: 10.1371/journal.pone.0116358. eCollection 2015. PLoS One. 2015. PMID: 25646853 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: kauffman ma. 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.
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: kauffman ma. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017. PLoS One. 2017. PMID: 28953922 Free PMC article.
85 results