Persones / Equip Humà

Carlos Ignacio Ortez Gonzalez

Buscador de publicacions

Publicacions

  • 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]

  • Gomez-Andres, D., Munell, F., Pascual, S. I. Pascual, Vazquez Lopez, M., Cols M, Campos, O. Garcia, Garrido, C., Grimalt, M. Antonia, Hernandez, A., Madruga-Garrido, M., Medina, J., Molera C, Moreno, T., Munoz 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): .

    [doi:10.1016/j.nrl.2025.501935]

  • 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]

  • 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]

  • 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: 4

    [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]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

    ANNALS OF NEUROLOGY . 98(6): 1335-1351. Nº de cites: 1

    [doi:10.1002/ana.78005]

  • Bouchikh-El Jarroudi R, Roche Fernández K, Casas-Gimeno E, González-Valdivia H, Ortez-Gonzalez CI, Roche D, Prat-Bartomeu J and Videla S.

    Blepharospasm management in Schwartz-Jampel syndrome: A systematic review.

    EUROPEAN JOURNAL OF OPHTHALMOLOGY . 35(6): 2277-2289. Nº de cites: 1

    [doi:10.1177/11206721251348991]

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

    Neuromuscular diseases in pediatrics with specific treatments

    MEDICINA-BUENOS AIRES . 85: 34-40.

  • Cerezo, S, Exposito-Escudero JM, Carrera-García L, Natera-de Benito D, Nascimento-Osorio A and Ortez-Gonzalez CI.

    Polineuropatías inmunomediadas.

    MEDICINA-BUENOS AIRES . 85 Suppl 4: 41-46.