English   español  

Browsing by Author Gougeard, Nadine

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 4 of 4
RightsPreviewIssue DateTitleAuthor(s)Type
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
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
closedAccess8-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, Jaume; López-Redondo, Marisa CSIC; Francés-Gómez, Clara; Ruiz-Rodríguez, Paula; Melero, Roberto CSIC ORCID; Sorzano, Carlos Óscar S.; Martínez, Marta; Gougeard, Nadine CSIC; Forcada-Nadal, Alicia CSIC ORCID; Zamora-Caballero, Sara; Gozalbo-Rovira, Roberto; Sanz-Frasquet, Carla; Bravo, Jerónimo CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Marina, Alberto CSIC ORCID; Geller, Ron; Comas, Iñaki CSIC ORCID ; Gil, Carmen ; Coscollá, Mireia; Orozco, Modesto; Llácer, José Luis CSIC ORCID; Carazo, José M.preprint
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; Fernandez-Murga, Leonor; Rufenacht, Veronique; Mustedanagic, Merima; Rubio, Vicente CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Haberle, Johannesartículo