People / Staff

Juan Darío Ortigoza Escobar

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Publications

  • Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C and Ortigoza-Escobar JD.

    Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 51: 110-117.

    [doi:10.1016/j.ejpn.2024.06.007]

  • Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Brodtkorb, E, Ostergaard, E, de Coo, I, Pias-Peleteiro LD, Isohanni, P, Uusimaa, J, Majamaa, K, Kaerppae, M, Ortigoza-Escobar JD, Tangeraas, T, Berland, S, Harrison, E, Biggs, H, Horvath, R, Darin, N, Rahman, S and Bindoff, LA.

    Status epilepticus in POLG disease: a large multinational study

    JOURNAL OF NEUROLOGY . 271(7): 3743-3753. Number of citations: 6

    [doi:10.1007/s00415-024-12463-5]

  • Villafuerte, B, Carrasco-López, C, Herranz, A, Garzón, L, Simón, R, Natera-de Benito D, Alikhani, P, Tenorio, J, Garcia-Santiago, F, Solis, M, del-Pozo, A, Lapunzina, P, Ortigoza-Escobar JD, Santisteban, P and Moreno, JC.

    A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

    THYROID . 34(7): 942-948.

    [doi:10.1089/thy.2023.0593]

  • Domínguez-Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L and Ortigoza-Escobar JD.

    Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

    FRONTIERS IN NEUROLOGY . 15: 1403815-1403815. Number of citations: 6

    [doi:10.3389/fneur.2024.1403815]

  • Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Schreiber R, Ortigoza-Escobar JD and Kunzelmann K.

    Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia

    BRAIN . 147(6): 1982-1995. Number of citations: 10

    [doi:10.1093/brain/awad412]

  • Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H and Maroofian R.

    Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia

    MOVEMENT DISORDERS . 39(6): 983-995. Number of citations: 4

    [doi:10.1002/mds.29754]

  • Awamleh, Z, Choufani, S, Wu, W, Rots, D, Dingemans, AJM, Khadri, NN, Boronat, S, Ibañez-Mico, S, Herraiz, LC, Ferrer, I, Carrascal, AM, Pérez-Jurado, LA, Lain, GA, Ortigoza-Escobar JD, de Vries, BBA, Koolen, DA and Weksberg, R.

    A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(3): 324-332. Number of citations: 5

    [doi:10.1038/s41431-024-01538-6]

  • Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I and Mariotti C.

    Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

    NEUROLOGICAL SCIENCES . 45(3): 1007-1016. Number of citations: 4

    [doi:10.1007/s10072-023-07101-3]

  • Lyu, Hang, Bosselmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar JD, Aguilera-Albesa, Sergio, Nunez, Deyanira Garcia -Navas, Linnankivi, Tarja, Gaily, Eija, Ruiten, Henriette J. A. van, Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schoels, Ludger, Lerche, Holger, Moller, Rikke S. and Liu, Yuanyuan.

    Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

    EBioMedicine . 98: . Number of citations: 10

    [doi:10.1016/j.ebiom.2023.104855]

  • Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A, Blasco-Amaro JA and Ortigoza-Escobar JD.

    Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series

    EUROPEAN JOURNAL OF NEUROLOGY . 30(12): 3928-3948. Number of citations: 3

    [doi:10.1111/ene.16038]