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

Year Number of Results
2005 1
2006 2
2007 1
2008 1
2009 4
2010 1
2011 1
2012 8
2013 4
2014 2
2015 4
2016 4
2017 4
2018 1
2019 4
2020 8
2021 6
2022 6
2023 4
2024 1

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56 results

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Page 1
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation.
Pijuan J, Sevrioukova IF, García-Campos Ó, Hernaez M, Gort L, Gómez-Chiari M, Jou C, Candela-Cantó S, Rumiá J, Artuch R, Palau F, Hoenicka J, Ortigoza-Escobar JD. Pijuan J, et al. Among authors: gort l. Mov Disord. 2024 Jan;39(1):215-217. doi: 10.1002/mds.29616. Epub 2023 Oct 3. Mov Disord. 2024. PMID: 37787095 No abstract available.
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S, Arranz JA, Ormazabal A, Toro MD, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Among authors: gort l. Orphanet J Rare Dis. 2023 Jul 13;18(1):188. doi: 10.1186/s13023-023-02793-4. Orphanet J Rare Dis. 2023. PMID: 37443087 Free PMC article. No abstract available.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: gort l. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 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: gort 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.
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.
Bujan N, Morén C, García-García FJ, Blázquez A, Carnicer C, Cortés AB, González C, López-Gallardo E, Lozano E, Moliner S, Gort L, Tobías E, Delmiro A, Martin MÁ, Fernández-Moreno MÁ, Ruiz-Pesini E, Garcia-Arumí E, Rodríguez-Aguilera JC, Garrabou G. Bujan N, et al. Among authors: gort l. Antioxidants (Basel). 2022 Apr 8;11(4):741. doi: 10.3390/antiox11040741. Antioxidants (Basel). 2022. PMID: 35453428 Free PMC article.
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.
56 results