TitleDateAuthorsDOI
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 20192021-01-01Pini, J; Siciliano, G; Lahaut, P; Braun, S; Segovia-Kueny, S; Kole, A; Hernando, I; Selb, J; Schirinzi, E; Duong, T; Hogrel, JY; Olmedo, JJS; Vissing, (2021). E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019. J Neuromuscul Dis, 8(4), 743-754. DOI: 10.3233/JND-210655https://doi.org/10.3233/JND-210655
A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives2021-01-01Westbury MV; Barnett R; Sandoval-Velasco M; Gower G; Vieira FG; de Manuel M; Hansen AJ; Yamaguchi N; Werdelin L; Marques-Bonet T; Gilbert MTP; Lorenze (2021). A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives. Gates Open Research, 1(), -. DOI: 10.12688/openreseurope.13104.1https://doi.org/10.12688/openreseurope.13104.1
A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives.2021-01-01Westbury MV; Barnett R; Sandoval-Velasco M; Gower G; Vieira FG; de Manuel M; Hansen AJ; Yamaguchi N; Werdelin L; Marques-Bonet T; Gilbert MTP; Lorenze (2021). A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives.. Open Research Europe, 1(), 25-. DOI: 10.12688/openreseurope.13104.2https://doi.org/10.12688/openreseurope.13104.2
Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens2020-12-21Barnett, R; Westbury, MV; Sandoval-Velasco, M; Vieira, FG; Jeon, S; Zazula, G; Martin, MD; Ho, SYW; Mather, N; Gopalakrishnan, S; Ramos-Madrigal, J; d (2020). Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens. Current Biology, 30(24), 5018.e1-5025.e5. DOI: 10.1016/j.cub.2020.09.051https://doi.org/10.1016/j.cub.2020.09.051
Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome2020-12-17Spendiff, S; Howarth, R; McMacken, G; Davey, T; Quinlan, K; O'Connor, E; Slater, C; Hettwer, S; Mäder, A; Roos, A; Horvath, R; Lochmuller, H (2020). Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome. Frontiers In Molecular Neuroscience, 13(), 594220-. DOI: 10.3389/fnmol.2020.594220https://doi.org/10.3389/fnmol.2020.594220
Glioblastoma TCGA Mesenchymal and IGS 23 Tumors are Identifiable by IHC and have an Immune-phenotype Indicating a Potential Benefit from Immunotherapy2020-12-15Carrato, C; Alameda, F; Esteve-Codina, A; Pineda, E; Arpí, O; Martinez-García, M; Mallo, M; Gut, M; Lopez-Martos, R; Del Barco, S; Ribalta, T; Capella (2020). Glioblastoma TCGA Mesenchymal and IGS 23 Tumors are Identifiable by IHC and have an Immune-phenotype Indicating a Potential Benefit from Immunotherapy. Clinical Cancer Research, 26(24), 6600-6609. DOI: 10.1158/1078-0432.CCR-20-2171https://doi.org/10.1158/1078-0432.CCR-20-2171
Development of whole-genome multiplex assays and construction of an integrated genetic map using SSR markers in Senegalese sole2020-12-14Guerrero-Cózar, I; Perez-Garcia, C; Benzekri, H; Sánchez, JJ; Seoane, P; Cruz, F; Gut, M; Zamorano, MJ; Claros, MG; Manchado, M (2020). Development of whole-genome multiplex assays and construction of an integrated genetic map using SSR markers in Senegalese sole. Scientific Reports, 10(1), 21905-. DOI: 10.1038/s41598-020-78397-whttps://doi.org/10.1038/s41598-020-78397-w
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study2020-12-07Della Marina, A; Wibbeler, E; Abicht, A; Kölbel, H; Lochmüller, H; Roos, A; Schara, U (2020). Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study. Frontiers In Human Neuroscience, 14(), 560860-. DOI: 10.3389/fnhum.2020.560860https://doi.org/10.3389/fnhum.2020.560860
Muscle progenitor specification and myogenic differentiation are associated with changes in chromatin topology2020-12-04Zhang, N; Mendieta-Esteban, J; Magli, A; Lilja, KC; Perlingeiro, RCR; Marti-Renom, MA; Tsirigos, A; Dynlacht, BD (2020). Muscle progenitor specification and myogenic differentiation are associated with changes in chromatin topology. Nature Communications, 11(1), 6222-. DOI: 10.1038/s41467-020-19999-whttps://doi.org/10.1038/s41467-020-19999-w
Alteration in the Culex pipiens transcriptome reveals diverse mechanisms of the mosquito immune system implicated upon Rift Valley fever phlebovirus exposure2020-12-01Nunez, AI; Esteve-Codina, A; Gómez-Garrido, J; Brustolin, M; Talavera, S; Berdugo, M; Dabad, M; Alioto, T; Bensaid, A; Busquets, N (2020). Alteration in the Culex pipiens transcriptome reveals diverse mechanisms of the mosquito immune system implicated upon Rift Valley fever phlebovirus exposure. Plos Neglected Tropical Diseases, 14(12), e0008870-. DOI: 10.1371/journal.pntd.0008870https://doi.org/10.1371/journal.pntd.0008870
Linking omics and ecology to dissect interactions between the apple proliferation phytoplasma and its psyllid vector Cacopsylla melanoneura2020-12-01Weil, T; Ometto, L; Esteve-Codina, A; Gómez-Garrido, J; Oppedisano, T; Lotti, C; Dabad, M; Alioto, T; Vrhovsek, U; Hogenhout, S; Anfora, G (2020). Linking omics and ecology to dissect interactions between the apple proliferation phytoplasma and its psyllid vector Cacopsylla melanoneura. Insect Biochemistry And Molecular Biology, 127(), 103474-. DOI: 10.1016/j.ibmb.2020.103474https://doi.org/10.1016/j.ibmb.2020.103474
Characterization of nuclear mitochondrial insertions in the whole genomes of primates2020-12-01Dayama, G; Zhou, WC; Prado-Martinez, J; Marques-Bonet, T; Mills, RE (2020). Characterization of nuclear mitochondrial insertions in the whole genomes of primates. Nar Genom Bioinform, 2(4), lqaa089-. DOI: 10.1093/nargab/lqaa089https://doi.org/10.1093/nargab/lqaa089
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion2020-12-01McMacken, G; Lochmüller, H; Bansagi, B; Pyle, A; Lochmüller, A; Chinnery, PF; Laurie, S; Beltran, S; Matalonga, L; Horvath, R (2020). Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. Journal Of Neurology, 267(12), 3643-3649. DOI: 10.1007/s00415-020-10059-3https://doi.org/10.1007/s00415-020-10059-3
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency2020-12-01Hathazi, D; Griffin, H; Jennings, MJ; Giunta, M; Powell, C; Pearce, SF; Munro, B; Wei, W; Boczonadi, V; Poulton, J; Pyle, A; Calabrese, C; Gomez-Duran (2020). Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. Embo Journal, 39(23), e105364-. DOI: 10.15252/embj.2020105364https://doi.org/10.15252/embj.2020105364
Expanding the phenotype ofWiedemann-Steinersyndrome: Craniovertebral junction anomalies2020-12-01Giangiobbe, S; Caraffi, SG; Ivanovski, I; Maini, I; Pollazzon, M; Rosato, S; Trimarchi, G; Lauriello, A; Marinelli, M; Nicoli, D; Baldo, C; Laurie, S; (2020). Expanding the phenotype ofWiedemann-Steinersyndrome: Craniovertebral junction anomalies. American Journal Of Medical Genetics Part a, 182(12), 2877-2886. DOI: 10.1002/ajmg.a.61859https://doi.org/10.1002/ajmg.a.61859
LifeTime and improving European healthcare through cell-based interceptive medicine2020-11-19Rajewsky, N; Almouzni, G; Gorski, SA; Aerts, S; Amit, I; Bertero, MG; Bock, C; Bredenoord, AL; Cavalli, G; Chiocca, S; Clevers, H; De Strooper, B; Egg (2020). LifeTime and improving European healthcare through cell-based interceptive medicine. Nature, 587(7834), 377-386. DOI: 10.1038/s41586-020-2715-9https://doi.org/10.1038/s41586-020-2715-9
A comparative genomics multitool for scientific discovery and conservation2020-11-12Genereux, DP; Serres, A; Armstrong, J; Johnson, J; Marinescu, VD; Muren, E; Juan, DV; Bejerano, G; Casewell, NR; Chemnick, LG; Damas, J; Di Palma, F; (2020). A comparative genomics multitool for scientific discovery and conservation. Nature, 587(7833), 240-+. DOI: 10.1038/s41586-020-2876-6https://doi.org/10.1038/s41586-020-2876-6
Massive gene presence-absence variation shapes an open pan-genome in the Mediterranean mussel2020-11-10Gerdol, M; Moreira, R; Cruz, F; Gómez-Garrido, J; Vlasova, A; Rosani, U; Venier, P; Naranjo-Ortiz, MA; Murgarella, M; Greco, S; Balseiro, P; Corvelo, (2020). Massive gene presence-absence variation shapes an open pan-genome in the Mediterranean mussel. Genome Biology, 21(1), 275-. DOI: 10.1186/s13059-020-02180-3https://doi.org/10.1186/s13059-020-02180-3
Transcriptomic effects of tributyltin (TBT) in zebrafish eleutheroembryos. A functional benchmark dose analysis2020-11-05Martínez, R; Codina, AE; Barata, C; Tauler, R; Piña, B; Navarro-Martín, L (2020). Transcriptomic effects of tributyltin (TBT) in zebrafish eleutheroembryos. A functional benchmark dose analysis. Journal Of Hazardous Materials, 398(), 122881-. DOI: 10.1016/j.jhazmat.2020.122881https://doi.org/10.1016/j.jhazmat.2020.122881
Genomic evidence for recurrent genetic admixture during the domestication of Mediterranean olive trees (Olea europaea L.)2020-10-26Julca, I; Marcet-Houben, M; Cruz, F; Gómez-Garrido, J; Gaut, BS; Díez, CM; Gut, IG; Alioto, TS; Vargas, P; Gabaldón, T (2020). Genomic evidence for recurrent genetic admixture during the domestication of Mediterranean olive trees (Olea europaea L.). Bmc Biology, 18(1), 148-. DOI: 10.1186/s12915-020-00881-6https://doi.org/10.1186/s12915-020-00881-6