Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • Dini M, Maida E, Lavorgna L, Buizer A, Fanciulli A, Medijainen K, Nonnekes J, Ortigoza-Escobar JD, Salamon A, Timmann D, Vinciguerra C, Zádori D and Leocani L.

    Clinical telemonitoring and telerehabilitation of cognition in rare neurological diseases: a scoping review.

    JOURNAL OF NEUROLOGY . 273(7): .

    [doi:10.1007/s00415-026-13911-0]

  • Ramón-Gómez JL, de Felipe M, Balsells S, Martínez-Segura A, Ruiz C and Ortigoza-Escobar JD.

    Management of Movement Disorders in Chronic Neurological Conditions and Palliative Care: A Retrospective Cohort Study

    PEDIATRIC NEUROLOGY . 179: 54-62.

    [doi:10.1016/j.pediatrneurol.2026.03.006]

  • 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): .

    [doi:10.1172/JCI195336]

  • Sanz-Pons, J, Aladrén-Herrer, C, Ortigoza-Escobar JD, López-Gallardo, E, Martín-Navarro, A, Lanz-Martínez, CA, Camacho-Medina, YA, Fernández-González, I, Urbano, J, Montoya, J, Hernández-Castillo, Y, Bayona-Bafaluy, P and Ruiz-Pesini, E.

    Effects of a Mitochondrial Genetic Variant on Sevoflurane Hypersensitivity

    ANESTHESIOLOGY . 144(6): 1286-1298. Nº de cites: 1

    [doi:10.1097/ALN.0000000000006029]

  • Domínguez-Carral J, Domínguez Cobo AM, Balsells S, Aguilar A, Chang CT, Ludlam WG, Yang K, Bernardi K, Chinigioli M, Salazar-Villacorta A, Di Pisa V, Lamagrande-Casanova N, González-Alguacil E, De la Casa-Fages B, Okumura A, Rodríguez J, Agarwal A, Muñoz-Chesta D, Reynoso-Osnayo C, Lin A, Tabarki B, Parvin J, Gallo AA, Forno A, Maass F, Montiel Blanco J, Nasif S, Jennions E, Ramón-Gómez JL, Verhelst H, Nieto Barceló JJ, Cokolic Petrovic D, García Ruiz LV, van Riesen C, Rego Sousa P, Massaro Sanchez MDP, Khan HA, Hakami W, Friedman J, Espinoza-Quinteros I, Troncoso M, Garg D, Pauni M, Kurahashi H, Miranda-Herrero MC, Duat-Rodriguez A, Soliani L, Kurian MA, Schteinschnaider A, Srivastava S, Ebrahimi-Fakhari D, Martemyanov KA and Ortigoza-Escobar JD.

    Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78213]

  • 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 cites: 2

    [doi:10.1002/mds.70187]

  • Ludlam WG, Domínguez-Carral J, Schteinschnaider A, Martemyanov KA 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]

  • 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]

  • Xiol-Viñas C, Olival J, Martorell-Sampol L and Ortigoza-Escobar JD.

    A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.

    CLINICAL GENETICS . 109(2): 398-399.

    [doi:10.1111/cge.70093]

  • 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: 9

    [doi:10.1093/brain/awaf297]