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Page 1
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.
Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento A, Ortez C, Romero N, Palacios L, Jimenez-Mallebrera C, Jou C, Gouveia S, Couce ML. Fernández-Marmiesse A, et al. Among authors: palacios l. Neuromuscul Disord. 2017 Feb;27(2):188-192. doi: 10.1016/j.nmd.2016.11.002. Epub 2016 Nov 11. Neuromuscul Disord. 2017. PMID: 28040389
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Brito S, et al. Among authors: palacios l. Front Genet. 2015 Mar 23;6:102. doi: 10.3389/fgene.2015.00102. eCollection 2015. Front Genet. 2015. PMID: 25852744 Free PMC article.
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Brito S, et al. Among authors: palacios l. Front Genet. 2015 Jul 28;6:254. doi: 10.3389/fgene.2015.00254. eCollection 2015. Front Genet. 2015. PMID: 26284110 Free PMC article.
Antigen-stimulated PBMC transcriptional protective signatures for malaria immunization.
Moncunill G, Scholzen A, Mpina M, Nhabomba A, Hounkpatin AB, Osaba L, Valls R, Campo JJ, Sanz H, Jairoce C, Williams NA, Pasini EM, Arteta D, Maynou J, Palacios L, Duran-Frigola M, Aponte JJ, Kocken CHM, Agnandji ST, Mas JM, Mordmüller B, Daubenberger C, Sauerwein R, Dobaño C. Moncunill G, et al. Among authors: palacios l. Sci Transl Med. 2020 May 13;12(543):eaay8924. doi: 10.1126/scitranslmed.aay8924. Sci Transl Med. 2020. PMID: 32404508
Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M. Palacios L, et al. Atherosclerosis. 2012 Mar;221(1):137-42. doi: 10.1016/j.atherosclerosis.2011.12.021. Epub 2011 Dec 23. Atherosclerosis. 2012. PMID: 22244043
Clinical evaluation of the Procleix SARS-CoV-2 assay, a sensitive, high-throughput test that runs on an automated system.
Sauleda S, Palacios L, Brès V, Piñana M, Alonso-Hernandez L, Bes M, Piron M, Entrena E, Minguez-Micolau AM, Marimón JM, Gurrola A, Soria G, Puig L, Antón A, Pumarola T, Linnen JM. Sauleda S, et al. Among authors: palacios l. Diagn Microbiol Infect Dis. 2022 Jan;102(1):115560. doi: 10.1016/j.diagmicrobio.2021.115560. Epub 2021 Sep 25. Diagn Microbiol Infect Dis. 2022. PMID: 34688036 Free PMC article.
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