Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Garcia-Cazorla A, Cortés-Saladelafont E and Duarte S.

    Neuronal communication and synaptic metabolism in childhood epilepsy

    REVISTA DE NEUROLOGIA . 60(5): 219-228. Number of citations: 1

    [doi:10.33588/rn.6005.2014323]

  • 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. Number of citations: 449

    [doi:10.1002/ajmg.a.36887]

  • 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. Number of citations: 3

    [doi:10.1055/s-0035-1554782]

  • Poo P.

    Problems of transition, experiences and neuropediatrician's point of view

    REVISTA DE NEUROLOGIA . 60(CONGRESO 1): 1-10.

  • 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. Number of citations: 2

    [doi:10.1097/MCD.0000000000000064]

  • 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 . : .

    [doi:10.21203/rs.3.rs-3111263/v1]

  • Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:https://doi.org/10.1002/jimd.12841]

  • Bernaus S, Romagosa J, Mata-Miquel C, Stephan-Otto C, Benítez R, Valls-Esteve A and Munuera-del Cerro JL.

    Novel classification of brain vascular tortuosity measures: A systematic review.

    COMPUT BIOL MED . 190: 109990-109990.

    [doi:10.1016/j.compbiomed.2025.109990]

  • Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.

    Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease.

    JOURNAL OF MEDICAL GENETICS . : .

    [doi:10.1136/jmg-2024-110477]