Publicaciones
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Irelli, EC, Mazzeo, A, Caraballo, RH, Perulli, M, Moloney, PB, Peña-Ceballos, J, Simeone, N, Mieszczanek, TS, Marini, L, Licchetta, L, De Giorgis, V, Valenzuel, GR, Casellato, S, Cesaroni, E, Operto, FF, Domínguez-Carral J, Camacho-Saez AM, Ferretti, A, Santangelo, G, Aledo-Serrano, A, Rüegger, A, Mancardi, MM, Prato, G, Riva, A, Bergonzini, L, Cordelli, DM, Bonanni, P, Bisulli, F, Di Gennaro, G, Matricardi, S, Striano, P, Delantye, N, Marini, C, Battaglia, DI, Di Bonaventura, C, Ramantani, G and Gardella, E.
Real-world effectiveness and tolerability of highly purified cannabidiol in patients with monogenic developmental and epileptic encephalopathies with highly active epilepsy
EPILEPSY & BEHAVIOR . 180: .
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Ludlam WG, Domínguez-Carral J, Schteinschnaider A, Martemyanov KA and Ortigoza-Escobar JD.
Novel GNAO1 variant in a-helical domain reveals alternative mechanism of disease.
Genes & Diseases . 13(2): 101714-101714.
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Soto-Insuga V, Valls Carbó A, Pinzón-Acevedo AG, González-Alguacil E, Peñas JJG, Jamardo AS, Aznar-Laín G, Ibáñez-Micó S, Martínez HA, Buenache R, Rekarte S, Olivera AP, Tuero-Montiel E, Domínguez-Carral J, López M, Ribes AG, González MJM, Arias E, Ron AG, Boronat S, Viñas ET, Casellas D, Navarro V, Conejo D, Miravet E, Román IS, Nagel-Rein AG, Cabeza MM, Smeyers P and Aledo-Serrano Á.
Real-world use of cenobamate in pediatric focal epilepsies and developmental epileptic encephalopathies: A multicenter retrospective series.
EPILEPSIA . 66(12): 4712-4724. Nº de citas: 4
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Bernardi, K, Ortigoza-Escobar JD, Domínguez-Carral J, Espinoza-Quinteros, I, Mendo, LD, Koy, A and Thiel, M.
Severe upper airway dysfunction in GNAO1-related disorders.
Italian Journal of Pediatrics . 51(1): 296-296.
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Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD.
Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.
Movement Disorders Clinical Practice . 12(10): 1615-1621. Nº de citas: 2
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Wang T, Domínguez-Carral J, Ludlam WG, Segarra MJ, Marti MF, Bruining H, Martemyanov KA, Linkenkaer-Hansen K and Ortigoza-Escobar JD.
Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity.
EPILEPSIA . 66(10): 3992-4005. Nº de citas: 2
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Irelli, EC, Mazzeo, A, Caraballo, RH, Perulli, M, Moloney, PB, Pena-Ceballos, J, Rubino, M, Mieszczanek, KM, Santangelo, A, Licchetta, L, De Giorgis, V, Valenzuela, GR, Casellato, S, Cesaroni, E, Operto, FF, Domínguez-Carral J, Ramírez-Camacho A, Ferretti, A, Santangelo, G, Aledo-Serrano, A, Rueegger, A, Mancardi, MM, Prato, G, Riva, A, Bergonzini, L, Cordelli, DM, Bonanni, P, Bisulli, F, Di Gennaro, G, Matricardi, S, Striano, P, Delanty, N, Marini, C, Battaglia, D, Di Bonaventura, C, Ramantani, G, Gardella, E, Orsini, A and Coppola, A.
Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study
EPILEPSIA . 66(7): 2253-2267. Nº de citas: 12
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Domínguez-Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L and Ortigoza-Escobar JD.
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies
Frontiers in Neurology . 15: 1403815-1403815. Nº de citas: 18
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Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Domínguez-Carral J, Nascimento-Osorio A and Natera-de Benito D.
Epilepsy in Duchenne and Becker muscular dystrophies
Annals of Clinical and Translational Neurology . 11(6): 1456-1464. Nº de citas: 2
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Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function
ANNALS OF NEUROLOGY . 94(5): 987-1004. Nº de citas: 34
