Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | nov-2021 | Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry | Keller, Mareike; Brennenstuhl, Heiko; Hübschmann, Oya Kuseyri; Manti, Filippo; Palacios, Natalia Alexandra Julia; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I.; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesús; Garbade, Sven F.; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández-Ramos, Joaquín Alejandro; García-Cazorla, Ángeles; Hoffmann, Georg F.; Tay Kiat Hong, Stacey; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A.; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo CSIC ORCID; Oppebøen, Mari; Pearson, Toni S.; Sivri, H. Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing | artículo |
closedAccess | | 1-nov-2020 | Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome | Vanegas, María I.; Marcé-Grau, Anna; Martí-Sánchez, Laura; Mellid, Sara; Baide-Mairen, Heidy; Correa-Vela, Marta; Cazurro, Anna; Rodríguez, Carla; Toledo, Laura; Fernández-Ramos, Joaquín Alejandro; Pons, Roser; Aguilera-Albesa, Sergio; Martí, María-José; Eiris, Jesús; Iglesias Escalera, G.; Fábregues-Boixar, Oriol de; Maqueda, Elena; Garriz-Luis, Maite; Garriz-Luis, Maite; Madruga, Marcos CSIC; Espinós, Carmen CSIC ORCID; Macaya, Alfons; Cabrera, José Carlos; Pérez-Dueñas, Belén | artículo |
openAccess | | 20-sep-2021 | Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines | Hübschmann, Oya Kuseyri; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios I.; Kulhánek, Jan; Kurian, Manju A.; López-Laso, Eduardo; Oppebøen, Mari; Kılavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Bürgi, Sabine; Porta, Francesco; Honzík, Tomáš; Santer, René; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Hübschmann, Daniel; Garbade, Sven F.; iNTD Registry Study Group; García-Cazorla, Ángeles; Opladen, Thomas | artículo |
closedAccess | | jun-2019 | Synthesis, X‐ray characterization and density functional theory studies of N6 ‐benzyl‐N6 ‐methyladenine–M(II) complexes (M = Zn, Cd): The prominent role of π–π, C–H···π and anion–π interactions | Pons, Roser; Ibáñez, Cristina; Buades, Ana B.; Franconetti, Antonio; García Raso, Ángel; Fiol, Joan J.; Molins, Elies CSIC ORCID ; Frontera, Antonio | artículo |