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Year Number of Results
2005 1
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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.
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M. Hidalgo-Gutierrez A, et al. Among authors: gort l. Ann Neurol. 2024 Dec;96(6):1209-1224. doi: 10.1002/ana.27071. Epub 2024 Sep 4. Ann Neurol. 2024. PMID: 39230499 Free PMC article.
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.
Leigh syndrome associated with TRMU gene mutations.
Sala-Coromina J, Miguel LD, de Las Heras J, Lasa-Aranzasti A, Garcia-Arumi E, Carreño L, Arranz JA, Carnicer C, Unceta-Suárez M, Sanchez-Montañez A, Gort L, Tort F, Del Toro M. Sala-Coromina J, et al. Among authors: gort l. Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33365252 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.
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.
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.
60 results