Persones / Equip Humà

Carlos Ignacio Ortez Gonzalez

Buscador de publicacions

Publicacions

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Exposito-Escudero JM, Carrera-García L, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Estévez-Arias B, Tizzano E and Natera-de Benito D.

    Fenotipos de distrofia muscular congénita.

    MEDICINA-BUENOS AIRES . 86 Suppl 3: 7-13.

  • Carrera-García L, Estévez-Arias B, Nascimento-Osorio A, Exposito-Escudero JM, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Tizzano E, Natera-de Benito D and Ortez-Gonzalez CI.

    Patrón clínico y evolución de la enfermedad de Charcot-Marie-Tooth en pediatría.

    MEDICINA-BUENOS AIRES . 86 Suppl 3: 1-6.

  • Villar-Quiles RN, Foley AR, Metay C, Orbach R, Donkervoort S, Labella B, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Domínguez-González C, Horga A, Marti Carrera MI, Fernandez Torron R, Kurbatov S, Chausova P, Murtazina A, Subbotin D, Kuchina A, Frezzati R, Carvalho A, Waschbisch A, Allamand V, Zou Y, Richard P, Bönnemann CG and Stojkovic T.

    Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

    Journal of Neuromuscular Diseases . : .

    [doi:10.1177/22143602261453996]

  • Pitarch-Castellano I, Ortez-Gonzalez CI, Nascimento-Osorio A, Aguilera López P, Blanco Barca MO, Camacho-Salas A, García-Campos O, García-Jiménez MC, García-Romero M, Gómez-Andrés D, Grimalt-Calatayud MA, Hernández-Fabián A, Málaga-Diéguez I, Madruga-Garrido M, Marti-Carrera I, Martín-Viota L, Martínez-García MJ, Ramos-Fernández JM, Sánchez-Carpintero Abad R, Vázquez-Martín S and Giró-Perafita A.

    Delphi study on epidemiology, clinical management, disease burden, and treatment of paediatric patients with Duchenne muscular dystrophy in Spain.

    Neurologia . 41(6): 502007-502007.

    [doi:10.1016/j.nrleng.2026.502007]

  • Ortez-Gonzalez CI, Branas-Pampillón M, Fernandez JA, Guillen E, Terrancle Á, Maurino J, Montolio M and Camacho A.

    Management of Duchenne Muscular Dystrophy in Clinical Practice: A Survey-Based Study in Spain

    Neurology and Therapy . 15(3): 1033-1042.

    [doi:10.1007/s40120-026-00903-5]

  • Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera-de Benito D, Maroofian R and Tartaglia M.

    Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy , retinal dystrophy, juvenile cataracts, and microcephaly

    GENETICS IN MEDICINE . 28(5): 102558-102558.

    [doi:10.1016/j.gim.2026.102558]

  • Gómez-Andrés D, Munell F, Pascual Pascual SI, Vázquez López M, Cols M, García Campos O, Garrido C, Antonia Grimalt M, Hernandez A, Madruga-Garrido M, Medina J, Molera C, Moreno T, Muñoz Cabello B, Nascimento-Osorio A, Pinillos-Pisón S and Ortez-Gonzalez CI.

    Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis.

    Neurologia . 41(4): 501935-501935.

    [doi:10.1016/j.nrleng.2026.501935]

  • Gómez-Andrés, D, Munell, F, Pascual, SIP, López, MV, Cols M, Campos, OG, Garrido, C, Grimalt, MA, Hernandez, A, Madruga-Garrido, M, Medina J, Molera C, Moreno, T, Cabello, BM, Nascimento-Osorio A, Pinillos-Pisón S and Ortez-Gonzalez CI.

    Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis

    NEUROLOGIA . 41(4): .

    [doi:10.1016/j.nrl.2025.501935]

  • Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez-Gonzalez CI, Estévez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G and Korb E.

    Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

    BRAIN . 149(1): 343-359. Nº de cites: 6

    [doi:10.1093/brain/awaf212]

  • Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.

    Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

    Annals of Clinical and Translational Neurology . 13(1): 108-121.

    [doi:10.1002/acn3.70206]