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	1.	Clinical, etiological and therapeutic aspects of cerebral folate deficiency. [electronic resource] by Molero-Luis, Marta Serrano, Mercedes O'Callaghan, Maria M Sierra, Cristina Pérez-Dueñas, Belén García-Cazorla, Angels Artuch, Rafael Producer: 20160321 In: Expert review of neurotherapeutics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. [electronic resource] by Fernández-Marmiesse, Ana Sánchez-Iglesias, Sofía Darling, Alejandra O'Callaghan, María M Tonda, Raúl Jou, Cristina Araújo-Vilar, David Producer: 20200306 In: Seizure vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Mutation loads in different tissues from six pathogenic mtDNA point mutations. [electronic resource] by 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 Producer: 20160210 In: Mitochondrion vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content. [electronic resource] by 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 Producer: 20161031 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome. [electronic resource] by 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 Publication details: Frontiers in genetics 2019 In: Frontiers in genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease. [electronic resource] by 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 Publication details: Journal of clinical medicine Jan 2019 In: Journal of clinical medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)