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Publicacions

  • Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.

    Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    PEDIATRIC NEUROLOGY . 144: 11-15.

    [doi:10.1016/j.pediatrneurol.2023.03.004]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Nº de cites: 2

    [doi:10.1111/bpa.13134]

  • Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.

    Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature

    Movement Disorders Clinical Practice . 10(4): 547-557.

    [doi:10.1002/mdc3.13711]

  • Ponce J, Cobo-Cobo T, Murillo C, Gonce A, Domínguez N, Crovetto F, Guirado L, Palacio-Navarro A and Mar Bennasar Sans.

    Preterm Prelabour Rupture of Membranes before Viability in Twin Pregnancies: What Can We Expect?

    Journal of Clinical Medicine . 12(8): . Nº de cites: 1

    [doi:10.3390/jcm12082949]

  • Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.

    Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

    clinical case reports . 11(4): . Nº de cites: 1

    [doi:10.1002/ccr3.7275]

  • Sourbron, J, Auvin, S, Arzimanoglou A, Cross, JH, Hartmann, H, Pressler, R, Riney, K, Sugai, K, Wilmshurst, JM, Yozawitz, E and Lagae, L.

    Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications. Survey Report of ILAE Task Force Medical Therapies in Children

    Epilepsia Open . 8(1): 77-89. Nº de cites: 10

    [doi:10.1002/epi4.12666]

  • Martín-Gómez C, Ortigoza-Escobar JD, Nou-Fontanet L, Molina-Linde JM, Bachoud-Lévi AC, Léger J and Blasco-Amaro JA.

    Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol

    PLoS One . 18(2): .

    [doi:10.1371/journal.pone.0281573]

  • Becerra V, Hinojosa J, Candela-Cantó SA, Culebras D, Alamar AM, Armero-Campos G, Gastón Echaniz Barbero, Artés D, Munuera-del Cerro JL and Muchart-Lopez J.

    The impact of 1.5-T intraoperative magnetic resonance imaging in pediatric tumor surgery: Safety, utility, and challenges

    Frontiers in oncology . 12: 1021335-1021335.

    [doi:10.3389/fonc.2022.1021335]

  • Condominas E, Migliorelli C, Bachiller A, Aparicio J, San Antonio-Arce MV and Mañanas MA.

    Evaluation of connectivity measures to identify Seizure Onset and Propagation Zones in Refractory Epilepsy: A Case study with two different Post- Surgical Outcomes.

    2023 45TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE & BIOLOGY SOCIETY, EMBC . 2023: 1-4.

    [doi:10.1109/EMBC40787.2023.10340078]

  • Ortigoza-Escobar JD.

    Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.

    tremor and other hyperkinetic movements (new york, n.y.) . 13: 36-36.

    [doi:10.5334/tohm.801]