Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • 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 Ca(2+) influx by ORAI1.

    BMC MEDICINE . 23(1): 12-12.

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

  • 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. Nº de cites: 1

    [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]

  • 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 . 70(12): 1443-1451.

    [doi:10.1093/clinchem/hvae139]

  • Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA and Ortigoza-Escobar JD.

    Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 52: 10-19. Nº de cites: 2

    [doi:10.1016/j.ejpn.2024.06.011]

  • Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H and Maroofian R.

    Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

    MOVEMENT DISORDERS . 39(9): 1624-1630.

    [doi:10.1002/mds.29883]

  • Rots, D, Choufani, S, Faundes, V, Dingemans, AJM, Joss, S, Foulds, N, Jones, EA, Stewart, S, Vasudevan, P, Dabir, T, Park, SM, Jewell, R, Brown, N, Pais, L, Jacquemont, S, Jizi, K, van Ravenswaaij-Arts, CMA, Kroes, HY, Stumpel, CTRM, Ockeloen, CW, Diets, IJ, Nizon, M, Vincent, M, Cogne, B, Besnard, T, Kambouris, M, Anderson, E, Zackai, EH, McDougall, C, Donoghue, S, O'Donnell-Luria, A, Valivullah, Z, O'Leary, M, Srivastava, S, Byers, H, Leslie, N, Mazzola, S, Tiller, GE, Vera, M, Shen, JJ, Boles, R, Jain, V, Brischoux-Boucher, E, Kinning, E, Simpson, BN, Giltay, JC, Harris, J, Keren, B, Guimier, A, Marijon, P, de Vries, BBA, Motter, CS, Mendelsohn, BA, Coffino, S, Gerkes, EH, Afenjar, A, Visconti, P, Bacchelli, E, Maestrini, E, Delahaye-Duriez, A, Gooch, C, Hendriks, Y, Adams, H, Thauvin-Robinet, C, Josephi-Taylor, S, Bertoli, M, Parker, MJ, Rutten, JW, Caluseriu, O, Vernon, HJ, Kaziyev, J, Zhu, J, Kremen, J, Frazier, Z, Osika, H, Breault, D, Nair, S, Lewis, SME, Ceroni, F, Viggiano, M, Posar, A, Brittain, H, Giovanna, T, Giulia, G, Quteineh, L, Leuchter, RHV, Zonneveld-Huijssoon, E, Mellado, C, Marey, I, Coudert, A, Alvarez, MIA, Kennis, MGP, Bouman, A, Roifman, M, Rodríguez, MIA, Ortigoza-Escobar JD, Vernimmen, V, Sinnema, M, Pfundt, R, Brunner, HG, Vissers, LELM, Kleefstra, T, Weksberg, R and Banka, S.

    Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

    AMERICAN JOURNAL OF HUMAN GENETICS . 111(8): 1626-1642. Nº de cites: 1

    [doi:10.1016/j.ajhg.2024.06.009.]

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

    Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis

    PLoS One . 19(7): .

    [doi:10.1371/journal.pone.0303880]

  • Villafuerte, B, Carrasco-López, C, Herranz, A, Garzón, L, Simón, R, Natera-de Benito D, Alikhani, P, Tenorio, J, Garcia-Santiago, F, Solis, M, del-Pozo, A, Lapunzina, P, Ortigoza-Escobar JD, Santisteban, P and Moreno, JC.

    A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

    THYROID . 34(7): 942-948.

    [doi:10.1089/thy.2023.0593]

  • Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C and Ortigoza-Escobar JD.

    Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 51: 110-117.

    [doi:10.1016/j.ejpn.2024.06.007]