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Epilèpsia i trastorns del moviment en Pediatria

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Publicacions

  • Carmona-Hidalgo, B, Herrera-Ramos, E, Rodríguez-López, R, Nou-Fontanet, L, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.

    Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up

    PLoS One . 19(10): .

    [doi:10.1371/journal.pone.0309064]

  • Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.

    Extra-temporal pediatric low-grade gliomas and epilepsy

    CHILDS NERVOUS SYSTEM . 40(10): 3309-3327. Nº de cites: 1

    [doi:10.1007/s00381-024-06573-8]

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

    CLINICAL CHEMISTRY . 70(12): 1443-1451. Nº de cites: 1

    [doi:10.1093/clinchem/hvae139]

  • Fonseca, E, Olivé-Cirera, G, Martinez-Hernandez, E, Guasp, M, Naranjo, L, Ruiz-García, R, Caballero, E, González-Alvarez, ?á, Delgadillo V, Romeu-Cerrillo G, Del Prado-Sanchez C, Cabrera-Maqueda, JM, Benito-León, J, Iñiguez, C, Garcia-Dominguez, JM, Calles, C, Cano, A, Alvarez-Bravo, G, González-Suárez, I, Oreja-Guevara, C, Ros, M, Millan-Pascual, J, Meca-Lallana, JE, Canelo, LB, Martín-Martínez, J, Palao, M, Gracia, J, Villaverde-González, R, Llufriu, S, Blanco, Y, Saiz, A, Dalmau, J, Sepulveda, M and Armangue-Salvador T.

    Investigating the 2023 MOGAD Criteria in Children and Adults With MOG-Antibody Positivity Within and Outside Attacks

    Neurology . 103(6): . Nº de cites: 5

    [doi:10.1212/WNL.0000000000209682]

  • Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA and Ortigoza-Escobar JD.

    Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 52: 10-19. Nº de cites: 3

    [doi:10.1016/j.ejpn.2024.06.011]

  • Serafim AB, Olivé-Cirera G, Ortega-González Á, Kruer MC, Weese-Mayer D, Rand CM, Fons-Estupina C, Fernández-Ramos JA, Clemente M, Simabukuro MM, Embiruçu EK, Ibáñez-Micó S, Dalmau JO, Graus F, Armangue-Salvador T and Sabater L.

    Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome

    NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 11(5): . Nº de cites: 4

    [doi:10.1212/NXI.0000000000200276]

  • Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H and Maroofian R.

    Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders

    MOVEMENT DISORDERS . 39(9): 1624-1630. Nº de cites: 3

    [doi:10.1002/mds.29883]

  • Lasa-Aranzasti, A, Larasati, YA, Cardoso, JD, Solis, GP, Koval, A, Cazurro-Gutiérrez, A, Ortigoza-Escobar JD, Miranda, MC, De la Casa-Fages, B, Moreno-Galdó, A, Tizzano E, Gómez-Andrés, D, Verdura, E, Katanaev, VL and Pérez-Dueñas, B.

    Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation

    MOVEMENT DISORDERS . 39(9): 1578-1591. Nº de cites: 7

    [doi:10.1002/mds.29881]

  • Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Vissers LELM, Kleefstra T, Weksberg R and Banka S.

    Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

    AMERICAN JOURNAL OF HUMAN GENETICS . 111(8): 1626-1642. Nº de cites: 5

    [doi:10.1016/j.ajhg.2024.06.009]

  • Carmona-Hidalgo, B, Martín-Gómez, C, Herrera-Ramos, E, Rodríguez-López, R, Fontanet, LN, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.

    Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis

    PLoS One . 19(7): .

    [doi:10.1371/journal.pone.0303880]