Publicacions
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Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72.
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González-Crespo A, Brugada-Bellsolà F, Candela-Cantó SA, Aparicio J, Arboix JR and Hinojosa J.
Robot-assisted insular stereoelectroencephalography in pediatric drug-resistant epilepsy: accuracy and diagnostic value.
CHILDS NERVOUS SYSTEM . 40(11): 3729-3744.
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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.
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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: 2
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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): .
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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.
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Moya Quiros V, Adham A, Convers P, Lesca G, Mauguiere F, Soulier H, Arzimanoglou A, Bayat A, Braakman H, Camdessanche JP, Casenave P, Chaton L, Chaix Y, Chochoi M, Depienne C, Desportes V, De Ridder J, Dinkelacker V, Gardella E, Kluger GJ, Jung J, Lemesle Martin M, Mancardi MM, Mueller M, Poulat AL, Platzer K, Roubertie A, Stokman MF, Vulto-van Silfhout AT, Wiegand G and Mazzola L.
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy
ANNALS OF NEUROLOGY . : .
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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, van Ravenswaaij-Arts, CMA, Kroes, HY, Stumpel, CTRM, Ockeloen, CW, Diets, IJ, Nizon, M, Vincent, M, Cogne, 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, de 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, Leuchter, RHV, Zonneveld-Huijssoon, E, Mellado, C, Marey, I, Coudert, A, Alvarez, MIA, Kennis, MGP, Bouman, A, Roifman, M, Rodríguez, MIA, 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.
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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): .
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Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C and Ortigoza-Escobar JD.
Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 51: 110-117.