Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • Quiroz V, Alecu JE, Zubair U, Bernardi K, Zaman Z, Rong J, Tam A, Kunta A, Agianda HP, Battaglia N, Schmidt HJD, Resch D, Wyman N, Vogt LM, Uraba WB, Becker L, Kothur K, Gill D, Suarez B, Jofre JI, Arias C, Castiglioni C, da Silva Möller PD, Pinto Duarte AF, Eggers-Lisboa A, Ríos-Pohl L, Gonzalez-Ubilla M, Chaudhari C, Salazar-Villacorta A, Tian X, Dai L, Ding C, Zamani M, Nourbakhsh P, Shariati G, Pringsheim T, Lim WK, Bartolini E, Stamelou M, Bhatia P, Kruer MC, Desai S, Iype M, Necpál J, Crosiers D, Jones HF, Perez-Sanchez JR, Unal ED, Lopez-Ariztegui N, Kola S, Lin WS, Mansour AH, Triki CC, Fernández-Alvarez E, Roze E, Sahu J, Doja A, Nardocci N, Caputo D, Koy A, Bhate S, Kaliakatsos M, Robinson R, Hassell J, Pons R, Munchau A, Soliani L, Zea-Vera A, Tochen L, Morales-Briceño H, Dale RC, D'Gama A, Loddenkemper T, Pearl PL, Mohammad SS, Kurian MA, Gorodetsky C, Ortigoza-Escobar JD, Schierbaum L, Yang K and Ebrahimi-Fakhari D.

    Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

    BRAIN . 149(2): 563-578. Nº de cites: 2

    [doi:10.1093/brain/awaf297]

  • Nou-Fontanet L, Ravelli C, Burglen L, Balsells S, Valls-Villalba A, Schiffels ER, Innocenti A, Villafuerte B, Salazar-Villacorta A, Quiroz V, Sariego Jamardo A, Bonato G, Díaz-Gomez A, Afenjar A, Vilain C, da Silva Möller PD, Garcia-Navas Nuñez D, Krygier M, Molnar MJ, Milanowski L, Õunap K, Pauni M, Vega P, Borie R, Villamil-Osorio M, Yilmaz S, Zádori D, Zawadzka M, Barakat TS, Neuens S, Natera-de Benito D, Casas-Alba D, Soliani L, de Gusmao CM, Garone G, Specchio N, Carecchio M, Moreno JC, Magrinelli F, Bhatia KP, Ebrahimi-Fakhari D, Castiglioni C, Kurian MA, Carvalho JN, Pons R, Roze E, Doummar D and Ortigoza-Escobar JD.

    International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

    MOVEMENT DISORDERS . : .

    [doi:10.1002/mds.70187]

  • 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.

    [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): .

    [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 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]