Persones / Equip Humà

Juan Darío Ortigoza Escobar

Buscador de publicacions

Publicacions

  • 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): . Nº de cites: 2

    [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): . Nº de cites: 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 (new york, n.y.) . 13: 36-36.

    [doi:10.5334/tohm.801]

  • 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. Nº de cites: 7

    [doi:10.1002/mds.29182]

  • 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. Nº de cites: 2

    [doi:10.1111/cge.14194]

  • Ortigoza-Escobar JD, Fernández de Sevilla-Estrach M, Monfort L, Anton-Lopez J, Iglesias-Jimenez E, Rebollo M, Cristina Del prado Sanchez, 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.

    [doi:10.1016/j.jneuroim.2022.577917]

  • Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P and Lapunzina P.

    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

    Frontiers in Genetics . 13: 652454-652454. Nº de cites: 23

    [doi:10.3389/fgene.2022.652454]

  • Nguyen QTR, Ortigoza-Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB and Bachoud-Lévi AC.

    Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

    FRONTIERS IN NEUROLOGY . 13: 817753-817753. Nº de cites: 2

    [doi:10.3389/fneur.2022.817753]