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

Year Number of Results
2000 1
2006 1
2007 1
2008 1
2013 3
2014 2
2015 6
2016 9
2017 3
2018 8
2019 9
2020 4
2021 1
2024 0

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Page 1
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero D, Fernández-Marmiesse A, O'Callaghan MM, Ortigoza-Escobar JD, Iriondo M, Ruiz-Pesini E, García-Cazorla A, Gil-Campos M, Artuch R, Montoya J, Bayona-Bafaluy MP. Emperador S, et al. Among authors: fernandez marmiesse a. Front Genet. 2020 Jan 8;10:1300. doi: 10.3389/fgene.2019.01300. eCollection 2019. Front Genet. 2020. PMID: 31969900 Free PMC article.
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene.
Alcahut-Rodríguez C, Díaz-Maroto I, Fernández-Marmiesse A, García-García J. Alcahut-Rodríguez C, et al. Among authors: fernandez marmiesse a. Neurologia (Engl Ed). 2020 Sep;35(7):510-512. doi: 10.1016/j.nrl.2018.10.007. Epub 2019 Mar 8. Neurologia (Engl Ed). 2020. PMID: 30857783 Free article. English, Spanish. No abstract available.
43 results