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Year Number of Results
2004 1
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2006 1
2007 5
2008 3
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2011 4
2012 5
2013 9
2014 5
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2018 2
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2020 10
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84 results

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Page 1
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch R, Fons C, Ribes A, Tort F. Muñoz-Pujol G, et al. Among authors: garcia villoria j. J Inherit Metab Dis. 2023 Nov;46(6):1029-1042. doi: 10.1002/jimd.12681. Epub 2023 Oct 3. J Inherit Metab Dis. 2023. PMID: 37718653
Liver-targeted nanoparticles delivering nitric oxide reduce portal hypertension in cirrhotic rats.
Perramón M, Navalón-López M, Fernández-Varo G, Moreno-Lanceta A, García-Pérez R, Faneca J, López-Moya M, Fornaguera C, García-Villoria J, Morales-Ruiz M, Melgar-Lesmes P, Borrós S, Jiménez W. Perramón M, et al. Among authors: garcia villoria j. Biomed Pharmacother. 2024 Feb;171:116143. doi: 10.1016/j.biopha.2024.116143. Epub 2024 Jan 13. Biomed Pharmacother. 2024. PMID: 38219387 Free article.
Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders.
Morales-Romero B, González de Aledo-Castillo JM, Fernández Sierra C, Martínez Carreira C, Zaragoza Bonet C, Fernández Bonifacio R, Caro Miró MA, Argudo-Ramírez A, López Galera RM, García-Villoria J. Morales-Romero B, et al. Among authors: garcia villoria j. J Lipid Res. 2024 Mar;65(3):100516. doi: 10.1016/j.jlr.2024.100516. Epub 2024 Feb 4. J Lipid Res. 2024. PMID: 38320654 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.
Mateu-Bosch A, Segur-Bailach E, García-Villoria J, Gea-Sorlí S, Ruiz I, Del Rey J, Camps J, Guitart-Mampel M, Garrabou G, Tort F, Ribes A, Fillat C. Mateu-Bosch A, et al. Among authors: garcia villoria j. Gene Ther. 2024 Jan;31(1-2):12-18. doi: 10.1038/s41434-023-00428-8. Epub 2023 Nov 20. Gene Ther. 2024. PMID: 37985879 Free article.
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
Pané A, Milad C, Santana-Domínguez M, Baños N, Borras-Novell C, Espinosa G, Magnano L, Nomdedeu M, Moreno-Lozano PJ, Cofan F, Placeres M, Fernández RM, García-Villoria J, Garrabou G, Vinagre I, Tanner LM, Montserrat-Carbonell C, Forga-Visa MT. Pané A, et al. Among authors: garcia villoria j. J Clin Med. 2023 Oct 8;12(19):6405. doi: 10.3390/jcm12196405. J Clin Med. 2023. PMID: 37835050 Free PMC article. Review.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F. Morales-Romero B, et al. Among authors: garcia villoria j. Mol Genet Metab. 2024 Jul;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38878498
Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Pajares-García S, González de Aledo-Castillo JM, Flores-Jiménez JE, Collado T, Pérez J, Paredes-Fuentes AJ, Argudo-Ramírez A, López-Galera RM, Prats B, García-Villoria J. Pajares-García S, et al. Among authors: garcia villoria j. Clin Chem Lab Med. 2023 Oct 6;62(3):493-505. doi: 10.1515/cclm-2023-0216. Print 2024 Feb 26. Clin Chem Lab Med. 2023. PMID: 37794778 Free article.
84 results