People / Staff

Juan Darío Ortigoza Escobar

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Publications

  • 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]

  • 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 . : .

    [doi:10.1002/mdc3.70102]

  • 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. Number of citations: 1

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

  • 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): . Number of citations: 1

    [doi:10.1002/jimd.12805]

  • Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.

    Clinical Response of Levodopa in CTNNB1 -Related Dystonia

    Journal of Pediatric Neurology . 22(06): 466-469.

    [doi:10.1055/s-0044-1787194]

  • Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.

    Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Number of citations: 3

    [doi:10.1016/j.ejpn.2024.10.005]

  • Carmona-Hidalgo, B, Herrera-Ramos, E, Rodríguez-López, R, Nou-Fontanet, L, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.

    Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up

    PLoS One . 19(10): .

    [doi:10.1371/journal.pone.0309064]