People / Staff

Juan Darío Ortigoza Escobar

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Publications

  • 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: .

    [doi:10.1016/j.ebiom.2023.104855]

  • 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]

  • Jana Domínguez Carral, 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 NAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004.

    [doi:10.1002/ana.26758]

  • Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew HE, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Mohnish S, Ebrahimi-Fakhari D, Houlden H and Maroofian R.

    The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

    BRAIN . 146(8): 3273-3288. Number of citations: 2

    [doi:10.1093/brain/awad039]

  • Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A and Durr A.

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    AMERICAN JOURNAL OF HUMAN GENETICS . 110(7): 1098-1109. Number of citations: 7

    [doi:10.1016/j.ajhg.2023.05.009]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Number of citations: 3

    [doi:10.1111/bpa.13134]

  • Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.

    Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature

    Movement Disorders Clinical Practice . 10(4): 547-557.

    [doi:10.1002/mdc3.13711]

  • Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.

    Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

    clinical case reports . 11(4): . Number of citations: 1

    [doi:10.1002/ccr3.7275]

  • Martín-Gómez C, Ortigoza-Escobar JD, Nou-Fontanet L, Molina-Linde JM, Bachoud-Lévi AC, Léger J and Blasco-Amaro JA.

    Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol

    PLoS One . 18(2): .

    [doi:10.1371/journal.pone.0281573]

  • Ortigoza-Escobar JD.

    Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

    TREMOR AND OTHER HYPERKINETIC MOVEMENTS . 13: 36-36.

    [doi:10.5334/tohm.801]