Personas / Equipo Humano

Juan Darío Ortigoza Escobar

Buscador de publicaciones

Publicaciones

  • Mencacci NE, Minakaki G, Maroofian R, De Pace R, Paimboeuf A, Branco Fonseca T, Abramova T, Shannon P, Chitayat D, Magrinelli F, Peng WJ, Chatterjee D, Eldessouky SH, Baptista J, Marton T, Vogt J, Ortigoza-Escobar JD, Martorell-Sampol L, Gómez-Chiari M, Wentzensen IM, Kamsteeg EJ, Zaki MS, Scardamaglia A, Zifarelli G, Al-Hassnan ZN, Miller E, Shinar S, Matsa LS, Appikonda SHC, Otaify GA, Al-Thihli K, Al-Maawali A, Schwake M, Severino M, Houlden H, Patten SA, Bonifacino JS, Bhatia KP and Krainc D.

    Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction

    JOURNAL OF CLINICAL INVESTIGATION . 136(11): . Nº de citas: 1

    [doi:10.1172/JCI195336]

  • 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 . 41(4): 889-900. Nº de citas: 5

    [doi:10.1002/mds.70187]

  • Monteiro B, Peixoto MI, Ortigoza-Escobar JD, Alves M, Sandiares AC, Gonçalves M, Moreira LV, Coutinho MF, Matos L, Alves S and Encarnação M.

    ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 Gene

    Genes . 17(3): .

    [doi:10.3390/genes17030288]

  • 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 citas: 13

    [doi:10.1093/brain/awaf297]

  • 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 citas: 1

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

  • 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]

  • 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 citas: 4

    [doi:10.1111/ene.70490]

  • Martín-Gómez, C, Molina-Linde, JM, Ortigoza-Escobar JD, Nou-Fontanet, L, Léger, J and Blasco-Amaro, JA.

    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. Nº de citas: 1

    [doi:10.1111/cge.14774]

  • Kristensen, E, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Brodtkorb, E, Ostergaard, E, de Coo, I, Pias-Peleteiro LD, Isohanni, P, Uusimaa, J, Majamaa, K, Kärppä, M, Martikainen, MH, Ortigoza-Escobar JD, Tangeraas, T, Berland, S, Sue, CM, Walker, JS, Harrison, E, Biggs, H, Horvath, R, Darin, N, Rahman, S and Hikmat, O.

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

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): . Nº de citas: 1

    [doi:10.1002/jimd.70112]