Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

por García-Cazorla, Àngels, Saudubray, Jean-Marie
Publicado 2018

Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

por Molero-Luis, Marta, Fernández-Ureña, Sergio, Jordán, Iolanda, Serrano, Mercedes, Ormazábal, Aida, Garcia-Cazorla, Àngels, Artuch, Rafael
Publicado 2013

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

por Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Publicado 2016

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

por Castells, Alba-Aina, Balada, Rafel, Tristán-Noguero, Alba, O’Callaghan, Mar, Cortès-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Àngels, Armstrong, Judith, Alcántara, Soledad
Publicado 2021

Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains

por Alonso, Antonia, Merchán, Paloma, Sandoval, Juan E., Sánchez-Arrones, Luisa, Garcia-Cazorla, Angels, Artuch, Rafael, Ferrán, José L., Martínez-de-la-Torre, Margaret, Puelles, Luis
Publicado 2012

Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

por Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels
Publicado 2020

U-IMD: the first Unified European registry for inherited metabolic diseases

por Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Juliá-Palacios, Natalia, García-Cazorla, Ángels, Dionisi-Vici, Carlo, Kölker, Stefan
Publicado 2021

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2017

Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

por Batllori, Marta, Casado, Mercedes, Sierra, Cristina, Salgado, Maria del Carmen, Marti-Sanchez, Laura, Maynou, Joan, Fernandez, Guerau, Garcia-Cazorla, Angels, Ormazabal, Aida, Molero-Luis, Marta, Artuch, Rafael
Publicado 2019

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2021

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

por Musokhranova, Uliana, Grau, Cristina, Vergara, Cristina, Rodríguez-Pascau, Laura, Xiol, Clara, Castells, Alba A., Alcántara, Soledad, Rodríguez-Pombo, Pilar, Pizcueta, Pilar, Martinell, Marc, García-Cazorla, Angels, Oyarzábal, Alfonso
Publicado 2023

Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

por Duarte, Sofia Temudo, Armstrong, Judith, Roche, Ana, Ortez, Carlos, Pérez, Ana, O’Callaghan, Maria del Mar, Pereira, Antonina, Sanmartí, Francesc, Ormazábal, Aida, Artuch, Rafael, Pineda, Mercedes, García-Cazorla, Angels
Publicado 2013

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

por Latzer, Itay Tokatly, Roullet, Jean-Baptiste, Cesaro, Samuele, DiBacco, Melissa L., Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Bertoldi, Mariarita, Pearl, Phillip L.
Publicado 2023

iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

por Tristán‐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, Rafael, Raya, Ángel, García‐Cazorla, Àngels, Consiglio, Antonella
Publicado 2023

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

por Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Publicado 2016

Plasma coenzyme Q(10) status is impaired in selected genetic conditions

por Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael
Publicado 2019

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

por Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael
Publicado 2017

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

por Castells, Alba-Aina, Gueraldi, Daniela, Balada, Rafel, Tristán-Noguero, Alba, Cortès-Saladelafont, Elisenda, Ramos, Federico, Meavilla, Silvia, De Los Santos, Mariela, Garcia-Volpe, Camila, Colomé, Roser, Couce, Maria Luz, Sierra, Cristina, Ormazábal, Aida, Batllori, Marta, Artuch, Rafael, Armstrong, Judith, Alcántara, Soledad, Garcia-Cazorla, Àngels
Publicado 2019

Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

por Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel, Pérez-Dueñas, Belén, Jordan, Iolanda, Cambra, Francisco J., Ortigoza-Escobar, Juan D., Muñoz-Almagro, Carmen, Garcia-Cazorla, Angels, Armangué, Thais, Artuch, Rafael
Publicado 2020

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

por Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, de Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén
Publicado 2022