Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • Bernardi K, Rong J, Northam WT, Kaminska M, Hasegawa H, Domínguez-Carral J, Vogt LM, Dijk JM, Beudel M, Chauvet-Piat E, Seng EC, Poulen G, Mahant N, Garone G, Pauni M, Rodríguez J, Munoz-Chesta D, Jones HF, De la Casa-Fages B, Miranda-Herrero MC, Jennions E, Lim WK, Zea Vera A, Mohammad S, Schuurman R, van de Pol LA, Roubertie A, Ibrahim GM, Gorodetsky C, Thiel M, Koy A, Ortigoza-Escobar JD, Lin JP, Lumsden DE, Ebrahimi-Fakhari D and Yang K.

    Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.

    ANNALS OF NEUROLOGY . 100(5): 1080-1088.

    [doi:10.1002/ana.78310]

  • Cif L, Demailly D, Souei Z, Mushhood Ur Rehman M, Ortigoza-Escobar JD, Castro-Jiménez M, Hubsch CA, Huby S, Dornadic M, Hariz GM, Moraud EM, Bloch J, Horvàth GA and Vasques X.

    Simultaneous hyperkinetic movement disorders phenotyping: a cross-cohort pediatric transfer study using routine videos, markerless pose estimation and a tabular foundation model.

    Frontiers in Neurology . 17: 1904458-1904458.

    [doi:10.3389/fneur.2026.1904458]

  • Awamleh, Z, Chen, A, Choufani, S, Rots, D, Ko, JM, Armour, CM, Nowaczyk, MJM, Hurst, ACE, Gibson, WT, Misceo, D, Frengen, E, Stromme, P, Soliani, L, McNiven, V, Alkhunaizi, E, Invernizzi, F, Fernandes, S, Sousa, S, Amoros, I, Scherer, SW, Kwint, M, Bienvenu, T, Garavaglia, BM, Ortigoza-Escobar JD and Weksberg, R.

    KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders

    GENETICS IN MEDICINE . 28(10): .

    [doi:10.1016/j.gim.2026.102636]

  • Ortigoza-Escobar JD, Marti-Sanchez L, Martorell-Sampol L, Dinoi G, Buono AV, De Luca A, Liantonio A and Imbrici P.

    A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.

    Annals of Clinical and Translational Neurology . 13(10): 2166-2171.

    [doi:10.1002/acn3.70536]

  • Kumar R, Gardner A, Bhattacharjee R, Agarwala S, van Eyk CL, Corbett MA, Carroll R, Kroes T, Ritchie T, de Nys R, Mazurkiewicz D, Bing W, Palmer EE, Field M, Verseput JJA, de Vries BBA, Dingemans AJM, Zhang Q, Li F, Bernier F, Lauzon J, Smigiel R, Ortigoza-Escobar JD, Garcia-Cazorla A, Darling A, Boerkoel CF, Huynh S, Costain G, van Ham TJ, Kasteleijn E, van Slegtenhorst M, Barakat TS, Elgersma Y, van Ierland Y, Veenma D, Azmanov D, Weisman AG, Prada CE, Parkash S, Rideout AL, Kerstjens-Frederikse WS, Vengoechea J, Schoene-Bake JC, Devillard F, van der Smagt J, Giesbertz NAA, Fry AE, Jezkova J, Kampmeier A, Kuechler A, Grasshoff U, Bertrand M, Hickey SE, Hunter JM, Marr MV, Dupont J, Bigoni S, Ferlini A, Selvatici R, Chatron N, Lesca G, Januel L, Rossi M, Rogers C, Davis JM, McKenzie F, Marbach F, Gieldon L, Schmidt WM, Paquay A, Bittner RE, Mahal S, Bernert G, Sinnerbrink I, Goodwin L, Cooper S, Bannink N, Jolly LA, McGaughran J, Bosman A, Hernan R, Chung WK, Valenzuela I, Cuscó I, Schlüter A, Pujol A, Pérez-Jurado LA and Gecz J.

    Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

    GENETICS IN MEDICINE . : 102734-102734.

    [doi:10.1016/j.gim.2026.102734]

  • Chen A, Jain M, Baribeau D, Gibson WT, Deardorff MA, Alkuraya FS, Ortigoza-Escobar JD, Nimmo G, Scherer SW, Choufani S, Goodman SJ and Weksberg R.

    Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation

    EUROPEAN JOURNAL OF HUMAN GENETICS . : .

    [doi:10.1038/s41431-026-02199-3]

  • Cif L, Demailly D, Horvàth GA, Ortigoza-Escobar JD, Dorison N, Castro Jiménez M, Hubsch CA, Wirth T, Hariz GM, Huby S, Dornadic M, Souei Z, Mushhood Ur Rehman M, Hemm S, Boulaymen M, Moraud EM, Bloch J and Vasques X.

    Deep Learning Pose Estimation for Phenotyping of Co-Occurring Hyperkinetic Movement Disorders

    Annals of Clinical and Translational Neurology . : . Nº de cites: 1

    [doi:10.1002/acn3.70474]

  • 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 . 100(1): 154-170. Nº de cites: 1

    [doi:10.1002/ana.78213]

  • Domínguez-Carral J, Reinhard C, Yoo J, Soliani L, Cif L and Ortigoza-Escobar JD.

    Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders

    NEUROMODULATION . 29(5): 824-832. Nº de cites: 2

    [doi:10.1016/j.neurom.2025.05.005]

  • 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]