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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Among authors: garrabou g. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
The adaptive antioxidant response during fasting-induced muscle atrophy is oppositely regulated by ZEB1 and ZEB2.
Ninfali C, Cortés M, Martínez-Campanario MC, Domínguez V, Han L, Tobías E, Esteve-Codina A, Enrich C, Pintado B, Garrabou G, Postigo A. Ninfali C, et al. Among authors: garrabou g. Proc Natl Acad Sci U S A. 2023 Nov 14;120(46):e2301120120. doi: 10.1073/pnas.2301120120. Epub 2023 Nov 10. Proc Natl Acad Sci U S A. 2023. PMID: 37948583 Free PMC article.
Imbalance in mitochondrial dynamics and apoptosis in pregnancies among HIV-infected women on HAART with obstetric complications.
Guitart-Mampel M, Hernandez AS, Moren C, Catalan-Garcia M, Tobias E, Gonzalez-Casacuberta I, Juarez-Flores DL, Gatell JM, Cardellach F, Milisenda JC, Grau JM, Gratacos E, Figueras F, Garrabou G. Guitart-Mampel M, et al. Among authors: garrabou g. J Antimicrob Chemother. 2017 Sep 1;72(9):2578-2586. doi: 10.1093/jac/dkx187. J Antimicrob Chemother. 2017. PMID: 28859443
Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations.
González-Casacuberta I, Morén C, Juárez-Flores DL, Esteve-Codina A, Sierra C, Catalán-García M, Guitart-Mampel M, Tobías E, Milisenda JC, Pont-Sunyer C, Martí MJ, Cardellach F, Tolosa E, Artuch R, Ezquerra M, Fernández-Santiago R, Garrabou G. González-Casacuberta I, et al. Among authors: garrabou g. Neurobiol Aging. 2018 May;65:206-216. doi: 10.1016/j.neurobiolaging.2018.01.021. Epub 2018 Feb 7. Neurobiol Aging. 2018. PMID: 29501959
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.
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. Among authors: garrabou g. 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.
Clinico-pathological phenotypes of systemic sclerosis-associated myopathy: analysis of a large multicentre cohort.
Matas-García A, Guillén-Del-Castillo A, Kisluk B, Selva-O'Callaghan A, Espinosa G, Prieto-González S, Moreno Lozano P, Garrabou G, Grau-Junyent JM, Simeon-Aznar CP, Milisenda JC. Matas-García A, et al. Among authors: garrabou g. Rheumatology (Oxford). 2023 Feb 6;62(SI):SI82-SI90. doi: 10.1093/rheumatology/keac361. Rheumatology (Oxford). 2023. PMID: 35713496
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.
Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San Millán B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. Cámara Y, et al. Among authors: garrabou g. Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6. Neurology. 2015. PMID: 25948719 No abstract available.
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