Publicacions
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O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.
Mutation loads in different tissues from six pathogenic mtDNA point mutations
Mitochondrion . 22: 17-22. Nº de cites: 14
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Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.
Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing
Cell . 161(3): 459-469. Nº de cites: 220
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Garcia-Cazorla A, Cortés-Saladelafont E and Duarte S.
Neuronal communication and synaptic metabolism in childhood epilepsy
REVISTA DE NEUROLOGIA . 60(5): 219-228. Nº de cites: 1
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Crow YJ, Chase DS, Schmidt JL, Szynkiewicz M, Forte GMA, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Genevieve, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J. V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D'Arrigo, Stefano, De Goede, Christian G. E. L., De Laet, Corinne, De Waele, Liesbeth M. H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, Antonio, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Lent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S. -M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenco, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E. V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas B, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Regal, Luc, Ricci, Federica, Rio, Marlene, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stoedberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona and Rice, Gillian I..
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 167(2): 296-312. Nº de cites: 425
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Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.
Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders
Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de cites: 3
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Poo P.
Problems of transition, experiences and neuropediatrician's point of view
REVISTA DE NEUROLOGIA . 60(CONGRESO 1): 1-10.
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Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.
Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature
CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Nº de cites: 1
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
CLINICAL CHEMISTRY . : .
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Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL.
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
research square . : .
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Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra-Checa A, Ramos F, Legius E, Moll HA, Elgersma Y and de Wit MY.
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . : .