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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2006 1
2007 4
2008 4
2009 4
2010 4
2011 2
2012 7
2013 4
2014 3
2015 2
2016 6
2017 3
2018 1
2019 1
2020 4
2021 7
2022 11
2023 6
2024 1

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67 results

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Page 1
A novel NONO nonsense variant in a fetus with renal abnormalities.
Rodriguez-Revenga L, Nadal A, Borobio V, Álvarez-Mora MI, Madrigal I, Pauta M, Borrell A. Rodriguez-Revenga L, et al. Prenat Diagn. 2024 Jan;44(1):77-80. doi: 10.1002/pd.6500. Epub 2023 Dec 18. Prenat Diagn. 2024. PMID: 38110236
Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research.
Alvarez-Mora MI, Garrabou G, Molina-Porcel L, Grillo-Risco R, Garcia-Garcia F, Barcos T, Cantó-Santos J, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Among authors: rodriguez revenga l. Cells. 2023 Sep 26;12(19):2364. doi: 10.3390/cells12192364. Cells. 2023. PMID: 37830578 Free PMC article.
Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
Córdoba-Jover B, Ribera J, Portolés I, Lecue E, Rodriguez-Vita J, Pérez-Sisqués L, Mannara F, Solsona-Vilarrasa E, García-Ruiz C, Fernández-Checa JC, Casals G, Rodríguez-Revenga L, Álvarez-Mora MI, Arteche-López A, Díaz de Bustamante A, Calvo R, Pujol A, Azkargorta M, Elortza F, Malagelada C, Pinyol R, Huguet-Pradell J, Melgar-Lesmes P, Jiménez W, Morales-Ruiz M. Córdoba-Jover B, et al. Among authors: rodriguez revenga l. Liver Int. 2023 Aug;43(8):1822-1836. doi: 10.1111/liv.15640. Epub 2023 Jun 14. Liver Int. 2023. PMID: 37312667
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I. Alvarez-Mora MI, et al. Among authors: rodriguez revenga l. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.
Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin-1.
Muñoz E, Jodar M, Guerrero J, Compta Y, Perissinotti A, Álvarez-Mora MI, Falgàs N, Rodríguez-Revenga L, Sánchez-Valle R. Muñoz E, et al. Among authors: rodriguez revenga l. Mov Disord Clin Pract. 2022 Oct 23;10(1):148-150. doi: 10.1002/mdc3.13588. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36699002 Free PMC article. No abstract available.
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.
Elias-Mas A, Potrony M, Bague J, Cutler DJ, Alvarez-Mora MI, Torres T, Barcos T, Puig-Butille JA, Rubio M, Madrigal I, Puig S, Allen EG, Rodriguez-Revenga L. Elias-Mas A, et al. Among authors: rodriguez revenga l. Front Aging Neurosci. 2023 Jan 6;14:1073258. doi: 10.3389/fnagi.2022.1073258. eCollection 2022. Front Aging Neurosci. 2023. PMID: 36688175 Free PMC article.
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Potrony M, Borrell A, Masoller N, Nadal A, Rodriguez-Carunchio L, Saez de Gordoa Elizalde K, Quesada-Espinosa JF, Villanueva-Cañas JL, Pauta M, Jodar M, Madrigal I, Badenas C, Alvarez-Mora MI, Rodriguez-Revenga L. Potrony M, et al. Among authors: rodriguez revenga l. J Clin Med. 2022 Jun 21;11(13):3570. doi: 10.3390/jcm11133570. J Clin Med. 2022. PMID: 35806855 Free PMC article.
Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.
Alvarez-Mora MI, Garrabou G, Barcos T, Garcia-Garcia F, Grillo-Risco R, Peruga E, Gort L, Borrego-Écija S, Sanchez-Valle R, Canto-Santos J, Navarro-Navarro P, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Among authors: rodriguez revenga l. Antioxidants (Basel). 2022 Jun 8;11(6):1129. doi: 10.3390/antiox11061129. Antioxidants (Basel). 2022. PMID: 35740026 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.
67 results