Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • Ortigoza-Escobar JD.

    Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling

    Current Neurology and Neuroscience Reports . 26(1): 6-6. Nº de cites: 1

    [doi:10.1007/s11910-025-01475-x]

  • Indelicato E, Carmona-Hidalgo B, Quintero J, Ortigoza-Escobar JD, Koy A, Salamon A, Tacik P, Muñoz-Delgado L, Giannini G, Reich M, Albanese A, Bäumer T, Grandas F, Jech R, Leonardos A, Mir P, Pérez-Dueñas B, Perez-Sanchez JR, Valldeoriola F, Zanni G, Vidailhet M, Rodríguez-López R, Blasco-Amaro JA, Reinhard C and Boesch S.

    Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review

    EUROPEAN JOURNAL OF NEUROLOGY . 33(1): . Nº de cites: 2

    [doi:10.1111/ene.70490]

  • Chinigioli M, Marti-Sanchez L, Yubero-Siles D, Xiol-Viñas C, Olival J, Alcalá-San Martin A, Hernando-Davalillo C, Martorell-Sampol L, Armstrong-Moron J, Schteinschnaider Á and Ortigoza-Escobar JD.

    Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 60: 50-57.

    [doi:10.1016/j.ejpn.2025.11.005]

  • Martin-Gomez, Carmen, Molina-Linde, Juan M., Ortigoza-Escobar JD, Nou-Fontanet, Laia, Leger, Juliane and Blasco-Amaro, Juan Antonio.

    Beyond chorea: a qualitative study of lived experiences in NKX2-1-related disorders

    Humanities & Social Sciences Communications . 13(1): .

    [doi:10.1057/s41599-025-06323-4]

  • 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]

  • Kristensen, Erle, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Irenaeus, Pias-Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Majamaa, Kari, Karppa, Mikko, Martikainen, Mika H., Ortigoza-Escobar JD, Tangeraas, Trine, Berland, Siren, Sue, Carolyn M., Walker, Judith Sylvia, Harrison, Emma, Biggs, Heather, Horvath, Rita, Darin, Niklas, Rahman, Shamima and Hikmat, Omar.

    Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): .

    [doi:10.1002/jimd.70112]

  • 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. 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): 296-296.

    [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. Nº de cites: 2

    [doi:10.1111/epi.18513]