Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
Marcé‐Grau, Anna, Martí‐Sánchez, Laura, Baide‐Mairena, Heidy, Ortigoza‐Escobar, Juan D., Pérez‐Dueñas, Belén
Published in Journal of inherited metabolic disease (01.07.2019)
Published in Journal of inherited metabolic disease (01.07.2019)
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Journal Article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders
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.
Published in Movement disorders (01.11.2022)
Published in Movement disorders (01.11.2022)
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Journal Article
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
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
Published in Brain pathology (Zurich, Switzerland) (01.05.2023)
Published in Brain pathology (Zurich, Switzerland) (01.05.2023)
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Journal Article
Dragon's Blood Sap: Storage Stability and Antioxidant Activity
Escobar, Juan D, Prieto, Cristina, Pardo-Figuerez, Maria, Lagaron, José M
Published in Molecules (Basel, Switzerland) (15.10.2018)
Published in Molecules (Basel, Switzerland) (15.10.2018)
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Journal Article
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
Batllori, Marta, Molero-Luis, Marta, Ormazabal, Aida, Montero, Raquel, Sierra, Cristina, Ribes, Antonia, Montoya, Julio, Ruiz-Pesini, Eduardo, O’Callaghan, Mar, Pias, Leticia, Nascimento, Andrés, Palau, Francesc, Armstrong, Judith, Yubero, Delia, Ortigoza-Escobar, Juan D., García-Cazorla, Angels, Artuch, Rafael
Published in Journal of inherited metabolic disease (01.12.2018)
Published in Journal of inherited metabolic disease (01.12.2018)
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Journal Article
Molecular characterization of Spanish patients with MECP2 duplication syndrome
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Journal Article
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome
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
Published in Frontiers in genetics (08.01.2020)
Published in Frontiers in genetics (08.01.2020)
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Journal Article
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases
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
Published in Scientific reports (26.10.2020)
Published in Scientific reports (26.10.2020)
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Journal Article
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
Trifunov, Selena, Paredes-Fuentes, Abraham J, Badosa, Carmen, Codina, Anna, Montoya, Julio, Ruiz-Pesini, Eduardo, Jou, Cristina, Garrabou, Glòria, Grau-Junyent, Josep M, Yubero, Dèlia, Montero, Raquel, Muchart, Jordi, Ortigoza-Escobar, Juan D, O’Callaghan, Maria M, Nascimento, Andrés, Català, Albert, Garcia-Cazorla, Àngels, Jimenez-Mallebrera, Cecilia, Artuch, Rafael
Published in Clinical chemistry (Baltimore, Md.) (01.08.2021)
Published in Clinical chemistry (Baltimore, Md.) (01.08.2021)
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Journal Article
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
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
Published in Journal of clinical medicine (10.01.2019)
Published in Journal of clinical medicine (10.01.2019)
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Journal Article
Front Cover
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, del Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Journal Article
Patterns of Use and Factors Associated with Early Discontinuation of Opiates after Major Trauma
Chaudhary, Muhammad Ali, MBBS, Scully, Rebecca, MD, Chowdhury, Ritam, MBBS, MPH, PhD, Sharma, Meesha, MBBS, Herrera-Escobar, Juan P., MD, Zogg, Cheryl K, Lilley, Elizabeth J., MD, MPH, Jiang, Wei, Schoenfeld, Andrew, MD, Haider, Adil H., MD, MPH, FACS
Published in Journal of the American College of Surgeons (01.10.2016)
Published in Journal of the American College of Surgeons (01.10.2016)
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Journal Article
Can a Comprehensive Peace Process Effectively Decrease the Incidence and Severity of Military Casualties?
Ordonez, Carlos A., MD, Garcia, Alberto, MD, Parra, Michael W., MD, Escobar, Sara, MD, Herrera-Escobar, Juan P., MD, Badiel, Marisol, MD, PhD, Morales, Monica, Cevallos, Cecibel, MD, Bayona, Juan G., MD, Puyana, Juan C., MD, FACS
Published in Journal of the American College of Surgeons (01.10.2016)
Published in Journal of the American College of Surgeons (01.10.2016)
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Journal Article