Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • 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.

    [doi:10.1016/j.ejpn.2024.10.005]

  • 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.

    [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]

  • 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]

  • Nou-Fontanet L, Marti-Sanchez L, Martorell-Sampol L, Casas J and Ortigoza-Escobar JD.

    Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.

    Movement Disorders Clinical Practice . 11(7): 889-893.

    [doi:10.1002/mdc3.14050]

  • Lasa-Aranzasti, A, Larasati, YA, Cardoso, JD, Solis, GP, Koval, A, Cazurro-Gutiérrez, A, Ortigoza-Escobar JD, Miranda, MC, De la Casa-Fages, B, Moreno-Galdó, A, Tizzano, EF, Gómez-Andrés, D, Verdura, E, Katanaev, VL and Pérez-Dueñas, B.

    Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation

    MOVEMENT DISORDERS . : .

    [doi:10.1002/mds.29881]

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

    Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia

    BRAIN . 147(6): 1982-1995. Nº de cites: 4

    [doi:10.1093/brain/awad412]

  • 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 . : .

    [doi:10.1055/s-0044-1787194]