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

von García-Cazorla, Àngels, Saudubray, Jean-Marie
Veröffentlicht in J Inherit Metab Dis (2018)

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

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

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

von Calpena, Eduardo, Casado, Mercedes, Martínez-Rubio, Dolores, Nascimento, Andrés, Colomer, Jaume, Gargallo, Eva, García-Cazorla, Angels, Palau, Francesc, Artuch, Rafael, Espinós, Carmen
Veröffentlicht 2012

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

von Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Veröffentlicht in PLoS One (2016)

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

von Palanca, Daniel, Garcia-Cazorla, Angels, Ortiz, Jessica, Jou, Cristina, Cusí, Victoria, Suñol, Mariona, Toll, Teresa, Perez, Belén, Ormazabal, Aida, Fowler, Brian, Artuch, Rafael
Veröffentlicht 2012

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

von Castells, Alba-Aina, Balada, Rafel, Tristán-Noguero, Alba, O’Callaghan, Mar, Cortès-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Àngels, Armstrong, Judith, Alcántara, Soledad
Veröffentlicht in Biomedicines (2021)

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

von 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
Veröffentlicht 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

von 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
Veröffentlicht in Int J Mol Sci (2020)

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

von 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
Veröffentlicht in Orphanet J Rare Dis (2021)

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

von 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
Veröffentlicht in Sci Rep (2017)

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

von 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
Veröffentlicht in Fluids Barriers CNS (2019)

Decreased hippocampal expression of Calbindin D(28K) and cognitive impairment in MELAS

von Emmanuele, Valentina, Garcia-Cazorla, Angels, Huang, Hua-Bin, Çoku, Jorida, Dorado, Beatriz, Cortes, Etty P, Engelstad, Kristin, De Vivo, Darryl C., DiMauro, Salvatore, Bonilla, Eduardo, Tanji, Kurenai
Veröffentlicht 2012

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

von 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
Veröffentlicht 2013

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

von Sánchez-Iglesias, Sofía, Crocker, Melissa, O’Callaghan, Mar, Darling, Alejandra, García-Cazorla, Angels, Domingo-Jiménez, Rosario, Castro, Ana, Fernández-Pombo, Antía, Ruibal, Álvaro, Aguiar, Pablo, Garrido-Pumar, Miguel, Rodríguez-Núñez, Antonio, Álvarez-Escudero, Julián, Brown, Rebecca J., Araújo-Vilar, David
Veröffentlicht in Neurogenetics (2019)

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

von 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
Veröffentlicht in Mol Genet Metab Rep (2016)

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

von 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
Veröffentlicht in Sci Rep (2019)

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

von 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
Veröffentlicht in Sci Rep (2017)

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

von 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
Veröffentlicht in Sci Rep (2019)

Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

von 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
Veröffentlicht in Sci Rep (2020)

Diagnosis and management of glutaric aciduria type I – revised recommendations

von Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Veröffentlicht 2011