Articles with public access mandates - Lourdes R. DesviatLearn more
Not available anywhere: 11
Pharmacological chaperoning: A potential treatment for PMM2‐CDG
P Yuste‐Checa, S Brasil, A Gámez, J Underhaug, LR Desviat, M Ugarte, ...
Human mutation 38 (2), 160-168, 2017
Mandates: Research Council of Norway, Government of Spain
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects
E Richard, LR Desviat, M Ugarte, B Pérez
Journal of cellular biochemistry 114 (1), 183-191, 2013
Mandates: Government of Spain
Minigenes to confirm exon skipping mutations
LR Desviat, B Pérez, M Ugarte
Exon Skipping: Methods and Protocols, 37-47, 2012
Mandates: Government of Spain
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia
R Sánchez‐Alcudia, B Pérez, M Ugarte, LR Desviat
Human mutation 33 (6), 973-980, 2012
Mandates: Government of Spain
Role of miRNAs in human disease and inborn errors of metabolism
A Rivera-Barahona, B Pérez, E Richard, LR Desviat
Journal of inherited metabolic disease 40 (4), 471-480, 2017
Mandates: Government of Spain
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I
R Pérez‐Carro, R Sánchez‐Alcudia, B Perez, R Navarrete, ...
Clinical genetics 86 (2), 167-171, 2014
Mandates: Government of Spain
Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG
P Yuste‐Checa, C Medrano, A Gámez, LR Desviat, G Matthijs, M Ugarte, ...
Clinical Genetics 87 (1), 42-48, 2015
Mandates: Government of Spain
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy
A Fulgencio-Covián, E Alonso-Barroso, AJ Guenzel, A Rivera-Barahona, ...
Translational Research 218, 43-56, 2020
Mandates: Banking Foundation "la Caixa", Government of Spain
Functional characterization of novel phenylalanine hydroxylase p. Gln226Lys mutation revealed Its non-responsiveness to tetrahydrobiopterin treatment in hepatoma cellular model
K Klaassen, M Djordjevic, A Skakic, LR Desviat, S Pavlovic, B Perez, ...
Biochemical genetics 56, 533-541, 2018
Mandates: Ministry of Education, Science and Technological Development of the Republic …
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia
M Stojiljkovic, K Klaassen, M Djordjevic, A Sarajlija, B Kecman, M Ugrin, ...
Journal of Pediatric Endocrinology and Metabolism 28 (3-4), 477-480, 2015
Mandates: Government of Spain
RNA-based therapies for inherited metabolic diseases
B Pérez, M Ugarte, LR Desviat
From Nucleic Acids Sequences to Molecular Medicine, 357-370, 2012
Mandates: Government of Spain
Available somewhere: 58
Delivery of oligonucleotide‐based therapeutics: challenges and opportunities
SM Hammond, A Aartsma‐Rus, S Alves, SE Borgos, RAM Buijsen, ...
EMBO molecular medicine 13 (4), e13243, 2021
Mandates: Danish Council for Independent Research, National Institute of Health and …
The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ...
The American Journal of Human Genetics 107 (2), 234-250, 2020
Mandates: US National Institutes of Health, Banking Foundation "la Caixa", Government …
Delivery is key: lessons learnt from developing splice‐switching antisense therapies
C Godfrey, LR Desviat, B Smedsrød, F Piétri‐Rouxel, MA Denti, P Disterer, ...
EMBO molecular medicine 9 (5), 545-557, 2017
Mandates: Danish Council for Independent Research, National Institute of Health and …
A Novel Regulatory Defect in the Branched‐Chain α‐Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant …
A Oyarzabal, M Martínez‐Pardo, B Merinero, R Navarrete, LR Desviat, ...
Human mutation 34 (2), 355-362, 2013
Mandates: Government of Spain
Protein misfolding diseases: prospects of pharmacological treatment
A Gámez, P Yuste‐Checa, S Brasil, Á Briso‐Montiano, LR Desviat, ...
Clinical genetics 93 (3), 450-458, 2018
Mandates: Government of Spain
The effects of PMM2‐CDG‐causing mutations on the folding, activity, and stability of the PMM2 protein
P Yuste‐Checa, A Gámez, S Brasil, LR Desviat, M Ugarte, C Pérez‐Cerdá, ...
Human mutation 36 (9), 851-860, 2015
Mandates: Government of Spain
Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option
B Perez, LG Gutiérrez‐Solana, A Verdu, B Merinero, P Yuste‐Checa, ...
Epilepsia 54 (2), 239-248, 2013
Mandates: Government of Spain
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG) Expression analysis of PMM2‐CDG mutations
AI Vega, C Pérez‐Cerdá, D Abia, A Gámez, P Briones, R Artuch, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2011
Mandates: Government of Spain
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia
L Gallego-Villar, C Pérez-Cerdá, B Pérez, D Abia, M Ugarte, E Richard, ...
Journal of inherited metabolic disease 36, 731-740, 2013
Mandates: Government of Spain
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