Browsing by Author García Cazorla, Àngels
Showing results 1 to 14 of 14
| Issue Date | Title | Author(s) |
|---|---|---|
| 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 Brugada, 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 Hristova, 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, 1968-; HSP/ATAXIA Workgroup |
| 14-Jan-2020 | Comprehensive analysis of GABAA-A1R developmental alterations in Rett Syndrome: setting the focus for therapeutic targets in the time frame of the disease | Oyarzabal, Alfonso; Xiol Viñas, Clara; Castells, Aina-Alba; Grau, Cristina; O'Callaghan, Mar; Fernàndez, Guerau; Alcántara Horrillo, Soledad; Pineda Marfà, Mercè; Armstrong i Morón, Judith; Altafaj, Xavier; García Cazorla, Àngels |
| 9-Feb-2023 | Deporte y función neuronal, moverse y pensar: Influencia de la actividad física en la atención, la memoria y el cálculo en alumnos de seis y siete años | Díaz Cobos, Gabriel |
| 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, Stéphane; 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 A.; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora, 1968-; GWMD working group |
| Jul-2024 | Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing | Morales Romero, Blai; Muñoz Pujol, Gerard; Artuch Iriberri, Rafael; García Cazorla, Àngels; O'Callaghan, Mar; Sykut Cegielska, Jolanta; Campistol Plana, Jaume; Moreno Lozano, Pedro Juan; Oud, Machteld M; Wevers, Ron A.; Lefeber, Dirk J.; Esteve Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes Rubió, Maria Antònia; García Villoria, Judit; Tort, Frederic |
| 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 |
| 6-Feb-2023 | IPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation | Tristá Noguero, Alba; Fernández Carasa, Irene; Calatayud, Carles; Bermejo Casadesús, Cristina; Pons Espinal, Meritxell; Colini Baldeschi, Arianna; Campa, Leticia; Artigas, Francesc; Bortolozzi, Analia; Domingo Jiménez, Rosario; Ibáñez, Salvador; Pineda, Mercè; Artuch Iriberri, Rafael; Raya Chamorro, Ángel; García Cazorla, Àngels; Consiglio, Antonella |
| 26-Oct-2023 | Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome | Xiol Viñas, Clara; Musokhranova, Uliana; Grau, Cristina; Vergara Paños, Cristina; Rodríguez-Pascau, Laura; Castells, Alba A.; Alcántara Horrillo, Soledad; Rodríguez-Pombo, Pilar; Pizcueta Lalanza, María Pilar; García Cazorla, Àngels; Oyarzabal, Alfonso; Martinell, Marc |
| 23-Nov-2021 | Paradigmatic de novo GRIN1 variants recapitulate pathophysiological mechanisms underlying GRIN1-related disorder clinical spectrum | Santos Gómez, Ana; Miguez Cabello, Federico; Juliá Palacios, Natalia; García Navas, Deyanira; Soto Insuga, Víctor; García Peñas, Juan J.; Fuentes, Patricia; Ibáñez Micó, Salvador; Cuesta, Laura; Cancho, Ramón; Andreo Lillo, Patricia; Gutiérrez Aguilar, Gema; Alonso Luengo, Olga; Málaga, Ignacio; Hedrera Fernández, Antonio; García Cazorla, Àngels; Soto del Cerro, David; Olivella, Mireia; Altafaj, Xavier |
| 17-Sep-2020 | Sistemes de neurotransmissió en trastorns neuropediàtrics | Cortès i Saladelafont, Elisenda |
| 23-May-2023 | Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity | Planas Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Bénédicte; Jou, Cristina; Juliá Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Torre, Carolina de la; Gelot, Antoinette; Marsal, Maria; Loza Álvarez, Pablo; García Cazorla, Àngels; Fatemi, Ali; Ferrer, Isidro (Ferrer Abizanda); Portero-Otin, Manuel; Area Gómez, Estela; Pujol Onofre, Aurora |
| 22-Nov-2019 | Tyrosine Hydroxylase Deficiency: Studies in patient samples and in a cellular model | Tristán Noguero, Alba |
| 28-Mar-2025 | Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry | Martín Hernández, Elena; Bellusci, Marcello; Pérez Mohand, Patricia; Correcher Medina, Patricia; Blasco Alonso, Javier; Morais López, Ana; Heras Montero, Javier de las; Meavilla Olivas, Silvia Maria; Dougherty de Miguel, Lucy; Couce, Maria Luz; Cañedo Villarroya, Elvira; García Jiménez, María Concepción; Moreno Lozano, Pedro Juan; Vives, Inmaculada; Gil Campos, Mercedes; Stanescu, Sinziana; Ceberio Hualde, Leticia; Camprodón Gómez, Maria; Cortès Saladelafont, Elisenda; López Urdiales, Rafael; Murray Hurtado, Mercedes; Márquez Armenteros, Ana Maria; Sierra Córcoles, Concha; Peña Quintana, Luis; Ruiz Pons, Mónica; Alcalde Martín, Carlos; Castellanos Pinedo, Fernando; Dios, Elena; Barrio Carreras, Delia; Martín Cazaña, María; García Peris, Mónica; Andrade, José David; García Volpe, Camila; Santos Mercedes, Mariela Mercedes de los; García Cazorla, Àngels; Toro, Mireia del; Felipe Rucian, Ana; Comino Monroy, Maria Jose; Sánchez Pintos, Paula; Matas García, Ana; Gil Ortega, David; Martín Rivada, Álvaro; Bergua Martínez, Ana; Belanger Quintana, Amaya; Vitoria Miñana, Isidro; Yahyaoui, Raquel; Pérez Gónzalez, María Belen; Morales Conejo, Montserrat; Quijada Fraile, Pilar |