A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
Fernández-Marmiesse, Ana, Sánchez-Iglesias, Sofía, Darling, Alejandra, O'Callaghan, María M., Tonda, Raúl, Jou, Cristina, Araújo-Vilar, David
Published in Seizure (London, England) (01.10.2019)
Published in Seizure (London, England) (01.10.2019)
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Journal Article
Mutation loads in different tissues from six pathogenic mtDNA point mutations
O'Callaghan, María M, Emperador, Sonia, Pineda, Mercè, López-Gallardo, Ester, Montero, Raquel, Yubero, Delia, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andrés, Ferrer, Isidre, García-Cazorla, Angels, Ruiz-Pesini, Eduardo, Montoya, Julio, Artuch, Rafael
Published in Mitochondrion (01.05.2015)
Published in Mitochondrion (01.05.2015)
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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
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication
Rodriguez-Gonzalez, Helena, Ormazabal, Aida, Casado, Mercedes, Arias, Angela Y, Oliva, Clara, Barranco-Altirriba, Maria, Casadevall, Ricard, García-Cuyas, Francesc, Nascimento, Andrés, Ortez, Carlos, Natera-de Benito, Daniel, Armangué, Thais, O'Callaghan, Maria M, Juliá-Palacios, Natalia, Darling, Alejandra, Ortigoza-Escobar, Juan Darío, Fons, Carmen, García-Cazorla, Angels, Perera-Lluna, Alexandre, Artuch, Rafael
Published in Clinical chemistry (Baltimore, Md.) (27.09.2024)
Published in Clinical chemistry (Baltimore, Md.) (27.09.2024)
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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
Clinical, etiological and therapeutic aspects of cerebral folate deficiency
Molero-Luis, Marta, Serrano, Mercedes, O'Callaghan, Maria M, Sierra, Cristina, Pérez-Dueñas, Belén, García-Cazorla, Angels, Artuch, Rafael
Published in Expert review of neurotherapeutics (01.07.2015)
Published in Expert review of neurotherapeutics (01.07.2015)
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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
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
Asencio, Claudio, Rodríguez-Hernandez, María A, Briones, Paz, Montoya, Julio, Cortés, Ana, Emperador, Sonia, Gavilán, Angela, Ruiz-Pesini, Eduardo, Yubero, Dèlia, Montero, Raquel, Pineda, Mercedes, O'Callaghan, María M, Alcázar-Fabra, María, Salviati, Leonardo, Artuch, Rafael, Navas, Plácido
Published in European journal of human genetics : EJHG (01.03.2016)
Published in European journal of human genetics : EJHG (01.03.2016)
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Journal Article
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q sub(10) content
Asencio, Claudio, Rodriguez-Hernandez, Maria A, Briones, Paz, Montoya, Julio, Cortes, Ana, Emperador, Sonia, Gavilan, Angela, Ruiz-Pesini, Eduardo, Yubero, Delia, Montero, Raquel, Pineda, Mercedes, O'Callaghan, Maria M, Alcazar-Fabra, Maria, Salviati, Leonardo, Artuch, Rafael, Navas, Placido
Published in European journal of human genetics : EJHG (01.03.2016)
Published in European journal of human genetics : EJHG (01.03.2016)
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