Browsing by Author Schlüter, Agatha
Showing results 7 to 26 of 31
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| Issue Date | Title | Author(s) |
|---|---|---|
| 6-Aug-2020 | Case Report: Benign Infantile Seizures Temporally Associated With COVID-19 | García Howard, Marcos; Herranz Aguirre, Mercedes; Moreno Galarraga, Laura; Urretavizcaya Martínez, María; Alegría Echauri, Josune; Gorría Redondo, Nerea; Planas Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol Onofre, Aurora; Aguilera Albesa, Sergio |
| 13-Aug-2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos Ignacio; García Cazorla, Àngels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes Rubió, Maria Antònia; Tort, Frederic; Schlüter, Agatha; Pujol Onofre, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez Mallebrera, Cecilia; Taylor, Robert W.; Artuch Iriberri, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita |
| 7-Sep-2023 | ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization | Schlüter, Agatha; Vélez Santamaría, Valentina; Verdura, Edgard; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes Pedret, Christian; Albertí Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás Vila, Miguel; Bullich, Gemma; García Pérez, M. Asunción; Sobrido Gómez, María Jesús; López Laso, Eduardo; Fons, Carme; Toro, Mireia del; Macaya, Alfons; García Cazorla, Àngels; Ortiz Martínez, Antonio José; Ortez, Carlos Ignacio; Cáceres Marzal, Cristina; Martínez Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Antón Airaldi, Ileana; Ruíz Martínez, Javier; Fernández Ramos, Joaquin A.; Vázquez, Juan Francisco; Díez Porras, Laura; Vázquez Cancela, María; O’Callaghan, Mar; Pablo Sánchez, Tamara; Nedkova, Velina; Maraña Pérez, Ana Isabel; Beltran, Sergi; Gutiérrez Solana, Luis G.; Pérez Jurado, Luis A.; Aguilera Albesa, Sergio; López de Munain, Adolfo; Casasnovas, Carlos; Pujol, Aurora; HSP/ATAXIA Workgroup |
| 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia | Verdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Castellano, Antonio; Pujol Onofre, Aurora |
| 1-Jan-2015 | Deregulation of purine metabolism in Alzheimer's disease | Ansoleaga, Belén; Jove, Mariona; Schlüter, Agatha; Garcia Esparcia, Paula; Moreno Castro, Jesús; Pujol Onofre, Aurora; Pamplona, Reinald; Portero Otin, Manuel; Ferrer, Isidro (Ferrer Abizanda) |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 24-Feb-2018 | Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation | Schlüter, Agatha; Sandoval, Juan; Fourcade, Stéphane; Díaz Lagares, Angel; Ruiz, Montserrat; Casaccia, Patrizia; Esteller, Manel; Pujol Onofre, Aurora |
| 14-Aug-2023 | Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia | Iruzubieta, Pablo; Pellerin, David; Bergareche, Alberto; Albajar, Inés; Mondragón, Elisabet; Vinagre, Ana; Fernández‐torrón, Roberto; Moreno, Fermín; Equiza, Jon; Campo‐caballero, David; Poza, Juan José; Ruibal, Marta; Formica, Alessandro; Dicaire, Marie‐josée; Danzi, Matt C.; Zuchner, Stephan; Croitoru, Ioana; Ruiz, Montserrat; Schlüter, Agatha; Casasnovas, Carlos; Pujol, Aurora; Brais, Bernard; Houlden, Henry; López de munain, Adolfo; Ruiz‐martínez, Javier |
| 1-Apr-2018 | Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes | Rotroff, Daniel M.; Pijut, Sonja S.; Skylar W.; Jack, John R.; Havener, Tammy M.; Pujol Onofre, Aurora; Schlüter, Agatha; Graf, Gregory A.; Ginsberg, Henry N.; Shah, Hetal S.; Gao, He; Morieri, Mario-Luca; Doria, Alessandro; Mychaleckyi, Josyf C.; Mcleod, Howard L.; Buse, John B.; Wagner, Michael J.; Motsinger-Reif, Alison A.; ACCORD/ACCORDion Investigators |
| 26-Apr-2020 | HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome | Reichert, Sara Chadwick; Li, Rachel; Turner, Scott; Van Jaarsveld, Richard H.; Massink, Maarten P. G.; Van Den Boogaard, Marie José H.; Toro, Mireia del; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Schlüter, Agatha; Planas Serra, Laura; Pujol Onofre, Aurora; Iascone, Maria; Maitz, Sylvia; Loong, Lucy; Stewart, Helen; Franco, Elisa De; Ellard, Sian; Frank, Julie; Lewandowski, Raymond |
| 5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
| 10-Feb-2023 | Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children | Lee, Danyel; Le Pen, Jérémie; Yatim, Ahmad; Dong, Beihua; Aquino, Yann; Ogishi, Masato; Pescarmona, Rémi; Talouarn, Estelle; Rinchai, Darawan; Zhang, Peng; Perret, Magali; Dalgard, Clifford L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stéphanie; Boisson, Bertrand; Maniatis, Tom; Zhang, Qian; Bastard, Paul; Notarangelo, Luigi D.; Béziat, Vivien; Perez De Diego, Rebeca; Rodriguez Gallego, Carlos; Su, Helen C.; Lifton, Richard P.; Jouanguy, Emmanuelle; Cobat, Aurélie; Alsina, Laia; Keles, Sevgi; Haddad, Elie; Casanova, Jean-Laurent; Abel, Laurent; Belot, Alexandre; Zhang, Shen-Ying; Quintana Murci, Lluis; Silverman, Robert H.; Rice, Charles M.; Liu, Zhiyong; Jordan Garcia, Iolanda; Elmas Bozdemir, Sefika; Bayhan, Gulsum Iclal; Beaufils, Camille; Bizien, Lucy; Bisiaux, Aurelie; Lei, Weite; Hasan, Milena; Chen, Jie; Gaughan, Christina; Asthana, Abhishek; Libri, Valentina; Luna, Joseph M.; Jaffré, Fabrice; Hoffmann, Heinrich H.; Michailidis, Eleftherios; Moreews, Marion; Seeleuthner, Yoann; Bilguvar, Kaya; Mane, Shrikant; Flores, Carlos; Zhang, Yu; Arias, Andrés A.; Bailey, Rasheed; Schlüter, Agatha; Milisavljevic, Baptiste; Bigio, Benedetta; Anton Lopez, Jordi; Le Voyer, Tom; Materna, Marie; Gervais, Adrian; Moncada Velez, Marcela; Pala, Francesca; Lazarov, Tomi; Levy, Romain; Neehus, Anna-Lena; Rosain, Jérémie; Peel, Jessica; Chan, Yi-Hao; Morin, Marie-Paule; Pino Ramírez, Rosa Maria; Belkaya, Serkan; Lorenzo, Lazaro; Delafontaine, Selket; Toubiana, Julie; Bajolle, Fanny; Fumadó, Victoria; DeDiego, Marta L.; Fidouh, Nadhira; Rozenberg, Flore; Pérez Tur, Jordi; Chen, Shuibing; Evans, Todd; Geissmann, Frédéric; Lebon, Pierre; Weiss, Susan R.; Bonnet, Damien; Duval, Xavier; CoV-Contact Cohort; COVID Human Genetic Effort; Pan-Hammarström, Qiang; Planas Obradors, Anna M.; Meyts, Isabelle; Haerynck, Filomeen; Pujol Onofre, Aurora; Sancho Shimizu, Vanessa |
| 23-Oct-2020 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Zhang, Qian; Dorgham, Karim; Schlüter, Agatha; Quiros Roldan, Eugenia; Novelli, Giuseppe; Planas Serra, Laura; Rodríguez Palmero, Agustí; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; NIAID-USUHS/TAGC COVID Immunity Group |
| 1-Jan-2019 | Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy | Pant, Devesh C.; Dorboz, Imen; Schlüter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera Albesa, Sergio; Yoldi, Maria Eugenia; Casasnovas Pons, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto e Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamrez; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug‐Tanguy, Odile; Pujol Onofre, Aurora |
| 1-Apr-2015 | Neuroinflammatory signals in alzheimer disease and app/psS1 transgenic mice: correlations with plaques, tangles, and oligomeric species | López González, Irene; Schlüter, Agatha; Aso Pérez, Ester; Garcia Esparcia, Paula; Ansoleaga, Belén; Llorens Torres, Franc; Carmona Murillo, Margarita; Moreno Castro, Jesús; Fuso, Andrea; Portero Otin, Manuel; Pamplona, Reinald; Pujol Onofre, Aurora; Ferrer, Isidro (Ferrer Abizanda) |
| Oct-2011 | Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy | Galino, Jorge; Ruiz, Montserrat; Fourcade, Stéphane; Schlüter, Agatha; López Erauskin, Jone; Guilera, Cristina; Jove, Mariona; Naudi, Alba; García Arumí, Elena; Andreu, Antoni L.; Starkov, Anatoly A.; Pamplona, Reinald; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Pujol Onofre, Aurora |
| Jan-2010 | PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome | Schlüter, Agatha; Real Chicharro, Alejandro; Gabaldón, Toni; Sánchez Jiménez, Francisca; Pujol Onofre, Aurora |
| 28-Nov-2006 | PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease | Schlüter, Agatha; Fourcade, Stéphane; Domènech Estévez, Enric; Gabaldón, Toni; Huerta Cepas, Jaime; Berthommier, Guillaume; Ripp, Raymond; Wanders, Ronald J. A.; Poch, Olivier; Pujol Onofre, Aurora |
| 22-Apr-2020 | Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study | Fernández Eulate, Gorka; Fernández Torrón, Roberto; Guisasola, Amaia; Iglesias Gaspar, Maria Teresa; Diaz Manera, Jordi; Maneiro, Miren; Zulaica, Miren; Olasagasti, Vicente; Formica, Alejandro Francisco; Espinal, Juan Bautista; Ruiz, Montserrat; Schlüter, Agatha; Pujol Onofre, Aurora; Poza, Juan José; López de Munain, Adolfo |
| 7-Jul-2011 | Phylogenomic Evidence for a Myxococcal Contribution to the Mitochondrial Fatty Acid Beta-Oxidation | Schlüter, Agatha; Ruiz Trillo, Iñaki; Pujol, Aurora, 1968- |