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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Fernández-Marmiesse A, et al. Among authors: pineda m. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59. Orphanet J Rare Dis. 2014. PMID: 24767253 Free PMC article.
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators. Patterson MC, et al. Among authors: pineda m. Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z. Orphanet J Rare Dis. 2015. PMID: 26017010 Free PMC article.
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: pineda m. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
NP-C Guidelines Working Group; Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC. NP-C Guidelines Working Group, et al. Among authors: pineda m. Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14. Mol Genet Metab. 2009. PMID: 19647672
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC. Bauer P, et al. Among authors: pineda m. Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773996 Free PMC article.
741 results