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Browsing by Author Gougeard, Nadine

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Showing results 1 to 11 of 11
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openAccess2016 Brain 139-e3 Author vers.pdf.jpgJan-2016ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismPanza, Emanuele; Escamilla-Honrubia, Juan Manuel; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Nemeth, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente CSIC ORCID ; Seri, Marcoartículo
openAccess2022 Clin Genet 101-481.pdf.jpgMay-2022CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiativeLuque, Juan M. CSIC; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz CSIC ORCID; Heredia, Miguel CSIC; Lopez Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pia; Artuch, Rafael; Fillat, Cristina; Pérez-Jurado, Luis A.; Montoliu, Lluís CSIC ORCID ; Carracedo, Ángel; Millán, José María; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo; Albiñana, Virginia CSIC; Arjona, Emilia CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Botella, Luisa María CSIC ORCID ; Pinto, Sheila CSIC; Rodríguez de Córdoba, Santiago ; Ruiz, Ángela; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID; Bravo-Gil, Nereida CSIC; González-del Pozo, María; Méndez-Vidal, Cristina CSIC ORCID; Arbones, Maria L. CSIC ORCID ; Caparrós-Martín, José Antonio; Cediel, Rafael CSIC; Contreras, Julio CSIC; Estañ, María Cristina CSIC; Guerrero-López, Rosa CSIC; Jiménez-Estrada, Juan Andrés CSIC; Manguan-García, Cristina CSIC; Murillo-Cuesta, Silvia CSIC ORCID; Palencia-Campos, Adrián CSIC; Perona Abellón, Rosario CSIC ORCID; Rivera-Barahona, Ana CSIC; Rodriguez-de la Rosa, Lourdes CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID; Sastre, Leandro CSIC ORCID; Valencia, María CSIC; Varela-Nieto, Isabel CSIC ORCID ; Cervera, Javier; Cima, Sergio de; Gougeard, Nadine CSIC; Heredia, Miguel CSIC; Llácer, José Luis CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Marina, Alberto CSIC ORCID ; Mollá, Belén CSIC ORCID; Moreno-Estellés, Mireia CSIC ORCID; Pérez-Jiménez, Eva; Rubio, Vicente CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Cortés-Rodríguez, Ana; Navas, Plácido CSIC ORCID; Sánchez Cuesta, Ana María; Santos-Ocaña, Carlos CSIC ORCID ; Fraga, Mario F. CSIC ORCID; Nieto, M. Ángela CSIC ORCID artículo de revisión
openAccess5-Oct-2022CryoEM structures of the SARS-CoV-2 spike bound to antiviralsLópez-Redondo, María Luisa; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC; Forcada-Nadal, Alicia CSIC ORCID; Adhav, Anmol; Zamora-Caballero, Sara; Melero, Roberto CSIC ORCID; Hurtado, Ramón; Peréz-Pérez, María-Jesús CSIC ORCID ; Bravo Sicilia, Jerónimo; Rubio, Vicente CSIC ORCID ; Marina, Alberto CSIC ORCID ; Llacer Guerri, Jose Luisactas de congreso
openAccesssebbm2015_Juanma.pdf.jpg7-Sep-2015Deciphering the mechanism by which 1-pyrrolin-5-carboxylate synthetase defects associate with dominant and recessive human pathologiesEscamilla Honrubia, Juan Manuel CSIC ORCID; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC; Rubio, Vicente CSIC ORCID póster de congreso
embargoedAccess2022 Arthr Rheumatology 74-1193_last author copy.pdf.jpgJul-2022Identification of Mitofusin 1 and Complement Component 1q Subcomponent Binding Protein as Mitochondrial Targets in Systemic Lupus ErythematosusBecker, Yann L. C.; Gagne, Jean-Philippe; Julien, Anne-Sophie; Levesque, Tania; Allaeys, Isabelle; Gougeard, Nadine CSIC; Rubio, Vicente CSIC ORCID ; Boisvert, Francois-Michel; Jean, Dominique; Wagner, Eric; Poirier, Guy G.; Fortin, Paul R.; Boilard, Ericartículo
openAccess2019-JIMD_Reports 48-3 .pdf.jpg2-May-2019N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effectsYap, Sufin; Gougeard, Nadine CSIC; Hart, Anthony R.; Barcelona, Belén CSIC ORCID; Rubio, Vicente CSIC ORCID artículo
openAccessPatología molecular_Gougeard_Congresos_2022.pdf.jpg6-Sep-2022Patología molecular y cristalografía de rayos X arrojan nueva luz sobre estructura-función de la carbamil fosfato sintetasa 1 humana (CPS1) (G01 35 P 027)Gougeard, Nadine CSIC; Díez-Fernández, Carmen CSIC; Cima, Sergio de; Polo, Luis Mariano CSIC ORCID; Marco-Marín, Clara CSIC ORCID; Fita, Ignacio CSIC ORCID ; Rubio, Vicente CSIC ORCID póster de congreso
openAccessrolemuta.pdf.jpg2022The role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: the case of the spike A222V mutationGinex, Tiziana CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Wieczor, Milosz; Mata, Carlos P.; Krieger, James; Ruiz-Rodríguez, Paula CSIC ORCID ; López-Redondo, Marisa CSIC; Francés-Gómez, Clara CSIC; Melero, Roberto CSIC ORCID; Sorzano, Carlos Óscar S.; Martínez, Marta; Gougeard, Nadine CSIC; Forcada-Nadal, Alicia CSIC ORCID; Zamora-Caballero, Sara; Gozalbo-Rovira, Roberto CSIC ORCID ; Sanz-Frasquet, Carla; Arranz, Rocío; Bravo, Jerónimo CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Marina, Alberto CSIC ORCID; The IBV-Covid19-Pipeline; Geller, Ron CSIC ORCID ; Comas, Iñaki CSIC ORCID ; Gil, Carmen CSIC ORCID ; Coscollá, Mireia CSIC ORCID; Orozco, Modesto; Llácer, José Luis CSIC ORCID ; Carazo, José M.comunicación de congreso
closedAccessaccesoRestringido.pdf.jpg8-Dec-2021The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: the case of the spike A222V mutationGinex, Tiziana CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Wieczor, Milosz; Mata, Carlos P.; Krieger, James; López-Redondo, Marisa CSIC; Francés-Gómez, Clara CSIC; Ruiz-Rodríguez, Paula CSIC ORCID ; Melero, Roberto CSIC ORCID; Sorzano, Carlos Óscar S.; Martínez, Marta; Gougeard, Nadine CSIC; Forcada-Nadal, Alicia CSIC ORCID; Zamora-Caballero, Sara; Gozalbo-Rovira, Roberto CSIC ORCID ; Sanz-Frasquet, Carla; Bravo, Jerónimo CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Marina, Alberto CSIC ORCID ; Geller, Ron CSIC ORCID ; Comas, Iñaki CSIC ORCID ; Gil, Carmen CSIC ORCID ; Coscollá, Mireia CSIC ORCID; Orozco, Modesto; Llácer, José Luis CSIC ORCID ; Carazo, José M.preprint
openAccessppat_Ginex_2022.pdf.jpg11-Jul-2022The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutationGinex, Tiziana CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Wieczor, Milosz; Mata, Carlos P.; Krieger, James; Ruiz-Rodríguez, Paula CSIC ORCID ; López-Redondo, Marisa CSIC; Francés-Gómez, Clara CSIC; Melero, Roberto CSIC ORCID; Sorzano, Carlos Óscar S.; Martínez, Marta; Gougeard, Nadine CSIC; Forcada-Nadal, Alicia CSIC ORCID; Zamora-Caballero, Sara; Gozalbo-Rovira, Roberto CSIC ORCID ; Sanz-Frasquet, Carla; Arranz, Rocío; Bravo, Jerónimo CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Marina, Alberto CSIC ORCID ; The IBV-Covid19-Pipeline; Geller, Ron CSIC ORCID ; Comas, Iñaki CSIC ORCID ; Gil, Carmen CSIC ORCID ; Coscollá, Mireia CSIC ORCID; Orozco, Modesto; Llácer, José Luis CSIC ORCID ; Carazo, José M.artículo
openAccess2016 Hum Mutat 37-679 Auth Vers.pdf.jpgJul-2016Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural ConsiderationsSancho-Vaello, Enea CSIC ORCID; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC; Fernández-Murga, Leonor; Rufenacht, Veronique; Mustedanagic, Merima; Rubio, Vicente CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Häberle, Johannesartículo