Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • Ludlam, William Grant, Domínguez-Carral J, Schteinschnaider, Angeles, Martemyanov, Kirill A and Ortigoza-Escobar JD.

    Novel GNAO1 variant in a-helical domain reveals alternative mechanism of disease.

    Genes & Diseases . 13(2): 101714-101714.

    [doi:10.1016/j.gendis.2025.101714]

  • Amato ME, Frías M, Cerisola A, Roldan-Molina M and Ortigoza-Escobar JD.

    Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility

    CLINICAL GENETICS . 108(6): 708-712.

    [doi:10.1111/cge.14774]

  • 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 Ca2+and K+ Channel Dynamics and Experience With Pallidal Deep Brain Stimulation

    PEDIATRIC NEUROLOGY . 172: 46-52. Nº de cites: 1

    [doi:10.1016/j.pediatrneurol.2025.07.020]

  • Bernardi, K, Ortigoza-Escobar JD, Domínguez-Carral J, Espinoza-Quinteros, I, Mendo, LD, Koy, A and Thiel, M.

    Severe upper airway dysfunction in GNAO1-related disorders

    Italian Journal of Pediatrics . 51(1): .

    [doi:10.1186/s13052-025-02150-0]

  • 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]

  • 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 . 66(10): 3992-4005.

    [doi:10.1111/epi.18513]

  • 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]

  • 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. Nº de cites: 1

    [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]