Personas / Equipo Humano

Juan Darío Ortigoza Escobar

Buscador de publicaciones

Publicaciones

  • Nou-Fontanet L, Ousingsawat J, Aziz M, Maroofian R, Karimiani EG, Fernández-López A, Candela-Cantó SA, Rumià J, Dominguez AM, Schreiber R, Kunzelmann K and Ortigoza-Escobar JD.

    Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca(2+) and K(+) Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.

    PEDIATRIC NEUROLOGY . 172: 46-52.

    [doi:10.1016/j.pediatrneurol.2025.07.020]

  • Maroofian R, Ortigoza-Escobar JD, Rohilla P, Alvi JR, Mushiba AM, Almontashiri NAM, Efthymiou S, Sultan T, Balla T and Houlden H.

    Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.

    MOVEMENT DISORDERS . 40(10): 2243-2250.

    [doi:10.1002/mds.30286]

  • Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD.

    Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.

    Movement Disorders Clinical Practice . 12(10): 1615-1621.

    [doi:10.1002/mdc3.70102]

  • De la Rosa SO, Rizzo V, Jauss RT, Bartolomaeus T, Escolar M, Bernard G, Gavrilova R, Ahrens-Nicklas R, Lemire G, Boycott KM, Mercimek-Andrews S, Prontera P, Costa C, Rakic B, Boerkoel CF, Huynh S, Huh L, Sherr E, Argilli E, Ortigoza-Escobar JD, Casas-Alba D, Nunes T, Koolen DA, Platzer K, Khinchi MS, Gardella E, Fenger CD, Møller RS and Bayat A.

    MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

    Epilepsia . 66(7): 2379-2390.

    [doi:10.1111/epi.18376]

  • Wang T, Domínguez-Carral J, Ludlam WG, Segarra MJ, Marti MF, Bruining H, Martemyanov KA, Linkenkaer-Hansen K and Ortigoza-Escobar JD.

    Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity

    Epilepsia . : .

    [doi:10.1111/epi.18513]

  • Granja-Dominguez A, Martin-Gomez C, Ortigoza-Escobar JD, Rodriguez-Lopez R, Gonzalez-Bermudez L, Dantone S, Pavanello S and Blasco-Amaro JA.

    A proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines

    PATIENT EDUCATION AND COUNSELING . 135: 108708-108708.

    [doi:10.1016/j.pec.2025.108708]

  • Michel K, Ruiz-Ramos, A, Nou-Fontanet, L, Martín-Gomez, C, Hidalgo, BC, Isabel-Gomez, R, Rosario-Lozano, MP, Rodriguez-Lopez, R, Wagner, TOF, Blasco-Amaro, JA, Griese, M and Ortigoza-Escobar JD.

    Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review

    Frontiers in Medicine . 12: .

    [doi:10.3389/fmed.2025.1507513]

  • Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Ortigoza-Escobar JD, Schreiber R and Kunzelmann K.

    Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1

    BMC MEDICINE . 23(1): 12-12. Nº de citas: 1

    [doi:10.1186/s12916-024-03839-5]

  • Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

    brain communications . 7(5): .

    [doi:10.1093/braincomms/fcaf348]

  • Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.

    Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Nº de citas: 1

    [doi:10.1002/jimd.12805]