People / Staff

Juan Darío Ortigoza Escobar

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Publications

  • 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]

  • Wang M, Helal S, Torabi-Marashi A, Goodman S, Kallurkar P, Truong TK, Mizrahi-Powell E, Evrony GD, Chacon-Fonseca I, Valenzuela Palafoll I, Kannu P, Piton A, Chitayat D, Boerkoel CF, Mendoza-Londono R, Ortigoza-Escobar JD, Kwint M, Rots D, Kleefstra T, Wojcik MH, Scherer SW, Hon-Yin Chung B, Ko JM, Bjornsson HT, Harris JR, Choufani S and Weksberg R.

    A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

    AMERICAN JOURNAL OF HUMAN GENETICS . 113(6): 1233-1252.

    [doi:10.1016/j.ajhg.2026.04.010]

  • 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. Number of citations: 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. Number of citations: 3

    [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. Number of citations: 1

    [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]