People / Staff

Juan Darío Ortigoza Escobar

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Publications

  • 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: 4

    [doi:10.1093/brain/awad412]

  • 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 . : . Number of citations: 3

    [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 . : .

    [doi:10.1089/thy.2023.0593]

  • 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: 2

    [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: 2

    [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: 2

    [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: 5

    [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]

  • de Pedro Baena S, Sariego Jamardo A, Castro P, López González FJ, Sánchez Carpintero R, Cerisola A, Troncoso M, Witting S, Barrios A, Fons-Estupina C, López Pisón J and Ortigoza-Escobar JD.

    Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

    Movement Disorders Clinical Practice . 10(11): 1671-1679.

    [doi:10.1002/mdc3.13880]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Number of citations: 10

    [doi:10.1002/ana.26758]