Publications
-
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. Number of citations: 2
-
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): .
-
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 . : .
-
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): .
-
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.
-
Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.
Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances
WORLD NEUROSURGERY . 187: 124-132.
-
Nou-Fontanet L, Marti-Sanchez L, Martorell-Sampol L, Casas J and Ortigoza-Escobar JD.
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Movement Disorders Clinical Practice . 11(7): 889-893.
-
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 . : .
-
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, EF, Gómez-Andrés, D, Verdura, E, Katanaev, VL and Pérez-Dueñas, B.
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
MOVEMENT DISORDERS . : .
-
Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . : .