Cerebral folate deficiency: Analytical tests and differential diagnosis von Pope, Simon, Artuch, Rafael, Heales, Simon, Rahman, Shamima

Volltext

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

Volltext

Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter von Rullo-Tubau, Josep, Martinez-Molledo, Maria, Bartoccioni, Paola, Puch-Giner, Ignasi, Arias, Ángela, Saen-Oon, Suwipa, Stephan-Otto Attolini, Camille, Artuch, Rafael, Díaz, Lucía, Guallar, Víctor, Errasti-Murugarren, Ekaitz, Palacín, Manuel, Llorca, Oscar

Volltext

Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition von Esparza-Moltó, Pau B, Romero-Carramiñana, Inés, Núñez de Arenas, Cristina, Pereira, Marta P, Blanco, Noelia, Pardo, Beatriz, Bates, Georgina R, Sánchez-Castillo, Carla, Artuch, Rafael, Murphy, Michael P, Esteban, José A, Cuezva, José M

Volltext

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

Volltext

CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina von Mirra, Serena, García-Arroyo, Rocío, B. Domènech, Elena, Gavaldà-Navarro, Aleix, Herrera-Úbeda, Carlos, Oliva, Clara, Garcia-Fernàndez, Jordi, Artuch, Rafael, Villarroya, Francesc, Marfany, Gemma

Volltext

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC von Batllori, Marta, Molero-Luis, Marta, Ormazabal, Aida, Casado, Mercedes, Sierra, Cristina, García-Cazorla, Angels, Kurian, Manju, Pope, Simon, Heales, Simon J, Artuch, Rafael

Volltext

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome von 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., 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, Rafael, Cousin, Margot A., Pujol, Aurora

Volltext

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study von Casasnovas, Carlos, Ruiz, Montserrat, Schlüter, Agatha, Naudí, Alba, Fourcade, Stéphane, Veciana, Misericordia, Castañer, Sara, Albertí, Antonia, Bargalló, Nuria, Johnson, Maria, Raymond, Gerald V., Fatemi, Ali, Moser, Ann B., Villarroya, Francesc, Portero-Otín, Manuel, Artuch, Rafael, Pamplona, Reinald, Pujol, Aurora

Volltext

Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia: relationship with monoamines and symptomatology von Afia, Amira Ben, Vila, Èlia, MacDowell, Karina S, Ormazabal, Aida, Leza, Juan C, Haro, Josep M, Artuch, Rafael, Ramos, Belén, Garcia-Bueno, Borja

Volltext

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns von Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, García-Cazorla, Ãngeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

Volltext

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy von Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia

Volltext

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

Volltext

Plasma coenzyme Q10 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

Volltext

Can folic acid have a role in mitochondrial disorders? von Ormazabal, Aida, Casado, Mercedes, Molero-Luis, Marta, Montoya, Julio, Rahman, Shamima, Aylett, Sophie-Beth, Hargreaves, Iain, Heales, Simon, Artuch, Rafael

Volltext

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree von Emperador, Sonia, Habbane, Mouna, López-Gallardo, Ester, Del Rio, Alejandro, Llobet, Laura, Mateo, Javier, Sanz-López, Ana María, Fernández-García, María José, Sánchez-Tocino, Hortensia, Benbunan-Ferreiro, Sol, Calabuig-Goena, María, Narvaez-Palazón, Carlos, Fernández-Vega, Beatriz, González-Iglesias, Hector, Urreizti, Roser, Artuch, Rafael, Pacheu-Grau, David, Bayona-Bafaluy, Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo

Volltext

Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetine von Adel, Maja R, Antón-Galindo, Ester, Gago-Garcia, Edurne, Arias-Dimas, Angela, Arenas, Concepció, Artuch, Rafael, Cormand, Bru, Fernàndez-Castillo, Noèlia

Volltext

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns von Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de Los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

Volltext

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy von Rodríguez-Hernández, Ángeles, Cordero, Mario D., Salviati, Leonardo, Artuch, Rafael, Pineda, Mercé, Briones, Paz, Gómez Izquierdo, Lourdes, Cotán, David, Navas, Plácido, Sánchez-Alcázar, José A.

Volltext

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene von Hernández-Ainsa, Carmen, Nascimento, Andrés, Jou, Cristina, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia

Volltext