Sanchez-Alcudia R - Search Results

1

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M. Desviat LR, et al. Mol Genet Metab. 2009 Apr;96(4):171-6. doi: 10.1016/j.ymgme.2008.12.009. Epub 2009 Jan 20. Mol Genet Metab. 2009. PMID: 19157943

2

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M. Pérez B, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549364

3

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.

Sánchez-Alcudia R, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR. Sánchez-Alcudia R, et al. Mol Genet Metab. 2011 Feb;102(2):134-8. doi: 10.1016/j.ymgme.2010.10.013. Epub 2010 Nov 5. Mol Genet Metab. 2011. PMID: 21094621

4

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

Sánchez-Alcudia R, Pérez B, Ugarte M, Desviat LR. Sánchez-Alcudia R, et al. Hum Mutat. 2012 Jun;33(6):973-80. doi: 10.1002/humu.22047. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22334403

5

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B. Rincón A, et al. Am J Hum Genet. 2007 Dec;81(6):1262-70. doi: 10.1086/522376. Am J Hum Genet. 2007. PMID: 17966092 Free PMC article.

6

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

Pérez-Carro R, Sánchez-Alcudia R, Pérez B, Navarrete R, Pérez-Cerdá C, Ugarte M, Desviat LR. Pérez-Carro R, et al. Clin Genet. 2014 Aug;86(2):167-71. doi: 10.1111/cge.12243. Epub 2013 Aug 21. Clin Genet. 2014. PMID: 23895425

7

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B. Jorge-Finnigan A, et al. Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307. Hum Mutat. 2010. PMID: 20556797 Free PMC article.

8

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR. Rivera-Barahona A, et al. PLoS One. 2015 Apr 8;10(4):e0122966. doi: 10.1371/journal.pone.0122966. eCollection 2015. PLoS One. 2015. PMID: 25853564 Free PMC article.

9

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR. Arrabal L, et al. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24. Neurogenetics. 2011. PMID: 21431957

10

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.

Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR. Rivera-Barahona A, et al. PLoS One. 2015 May 19;10(5):e0128506. doi: 10.1371/journal.pone.0128506. eCollection 2015. PLoS One. 2015. PMID: 25992811 Free PMC article. No abstract available.

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