People / Staff

Juan Darío Ortigoza Escobar

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Publications

  • 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: 4

    [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: 11

    [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: 5

    [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. Number of citations: 1

    [doi:10.1002/mdc3.13711]

  • 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]

  • Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD.

    De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder

    CLINICAL GENETICS . 102(5): 434-437. Number of citations: 2

    [doi:10.1111/cge.14194]

  • Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V and Kurian MA.

    The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders

    MOVEMENT DISORDERS . 37(11): 2197-2209. Number of citations: 11

    [doi:10.1002/mds.29182]

  • Martorell-Sampol L, Macaya A, Pérez-Dueñas B and Ortigoza-Escobar JD.

    Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants

    Movement Disorders Clinical Practice . 9(7): 979-982. Number of citations: 2

    [doi:10.1002/mdc3.13528]

  • Ortigoza-Escobar JD, Fernández de Sevilla-Estrach M, Monfort L, Anton-Lopez J, Iglesias-Jimenez E, Rebollo M, Del Prado-Sanchez C, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou-Munoz C and Català-Temprano A.

    Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant

    JOURNAL OF NEUROIMMUNOLOGY . 369: 577917-577917. Number of citations: 4

    [doi:10.1016/j.jneuroim.2022.577917]