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Page 1
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.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A. Tort F, et al. Among authors: gort l. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414
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.
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.
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.
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
Pérez Poyato MS, Milá Recansens M, Ferrer Abizanda I, Domingo Jiménez R, López Lafuente A, Cusí Sánchez V, Rodriguez-Revenga L, Coll Rosell MJ, Gort L, Póo Argüelles P, Pineda Marfa M. Pérez Poyato MS, et al. Among authors: gort l. Gene. 2012 May 15;499(2):297-302. doi: 10.1016/j.gene.2012.02.013. Epub 2012 Feb 22. Gene. 2012. PMID: 22387303
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
Pérez-Poyato MS, Marfa MP, Abizanda IF, Rodriguez-Revenga L, Sánchez VC, González MJ, Puñal JE, Pérez AV, González MM, Bermejo AM, Hernández EM, Rosell MJ, Gort L, Milá M. Pérez-Poyato MS, et al. Among authors: gort l. J Child Neurol. 2013 Apr;28(4):470-8. doi: 10.1177/0883073812448459. Epub 2012 Jul 25. J Child Neurol. 2013. PMID: 22832778
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.
77 results