Dragon’s Blood Sap: Storage Stability and Antioxidant Activity

por Escobar, Juan D., Prieto, Cristina, Pardo-Figuerez, Maria, Lagaron, José M.
Publicado 2018

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

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

por Muñoz‐Pujol, Gerard, Ortigoza‐Escobar, Juan D., Paredes‐Fuentes, Abraham J., Jou, Cristina, Ugarteburu, Olatz, Gort, Laura, Yubero, Delia, García‐Cazorla, Angels, O'Callaghan, Mar, Campistol, Jaume, Muchart, Jordi, Yépez, Vicente A., Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic
Publicado 2022

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

por Emperador, Sonia, Garrido-Pérez, Nuria, Amezcua-Gil, Javier, Gaudó, Paula, Andrés-Sanz, Julio Alberto, Yubero, Delia, Fernández-Marmiesse, Ana, O’Callaghan, Maria M., Ortigoza-Escobar, Juan D., Iriondo, Marti, Ruiz-Pesini, Eduardo, García-Cazorla, Angels, Gil-Campos, Mercedes, Artuch, Rafael, Montoya, Julio, Bayona-Bafaluy, María Pilar
Publicado 2020

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

por Jou, Cristina, Ortigoza-Escobar, Juan D., O’Callaghan, Maria M., Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Publicado 2019

The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

por Pérez‐Dueñas, Belén, Gorman, Kathleen, Marcé‐Grau, Anna, Ortigoza‐Escobar, Juan D., Macaya, Alfons, Danti, Federica R., Barwick, Katy, Papandreou, Apostolos, Ng, Joanne, Meyer, Esther, Mohammad, Shekeeb S., Smith, Martin, Muntoni, Francesco, Munot, Pinki, Uusimaa, Johanna, Vieira, Päivi, Sheridan, Eammon, Guerrini, Renzo, Cobben, Jan, Yilmaz, Sanem, De Grandis, Elisa, Dale, Russell C., Pons, Roser, Peall, Kathryn J., Leuzzi, Vincenzo, Kurian, Manju A.
Publicado 2022