Investigación

Epilepsia y trastornos del movimiento en Pediatría

Buscador de publicaciones

Publicaciones

  • Auvin, Stephane, Arzimanoglou A, Beller, Cynthia, Floricel, Florin, Daniels, Tony and Bozorg, Ali.

    Safety, tolerability, and efficacy of adjunctive lacosamide in pediatric patients with epilepsy syndromes associated with generalized seizures: Phase 2, open-label exploratory trial

    Epilepsia . 64(11): 2947-2957. Nº de citas: 2

    [doi:10.1111/epi.17741]

  • Limpo, Hiria, Candela-Cantó SA, Asensio, Silvia, Palacio-Navarro, Andrea, Aparicio J, Perin, Alejandra Climent, Hinojosa, Jose and Rumia, Jordi.

    A multidisciplinary approach to posterior quadrant disconnective epilepsy surgery in pediatric patients

    Neurochirurgie . 69(6): . Nº de citas: 1

    [doi:10.1016/j.neuchi.2023.101489]

  • de Pedro Baena S, Sariego Jamardo A, Castro P, López González FJ, Sánchez Carpintero R, Cerisola A, Troncoso M, Witting S, Barrios A, Fons-Estupina C, López Pisón J and Ortigoza-Escobar JD.

    Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

    Movement Disorders Clinical Practice . 10(11): 1671-1679. Nº de citas: 2

    [doi:10.1002/mdc3.13880]

  • Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.

    CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042.

    [doi:10.1002/jimd.12681]

  • 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: 12

    [doi:10.1002/ana.26758]

  • Patel SH, Panagiotakaki E, Papadopoulou MT, Fons-Estupina C, De Grandis E, Vezyroglou A, Balestrini S, Hong H, Liu B, Prange L, Arzimanoglou A, Vavassori R and Mikati MA.

    Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

    JOURNAL OF CHILD NEUROLOGY . 38(10-12): 597-610. Nº de citas: 2

    [doi:10.1177/08830738231197861]

  • Mancuso, Michelangelo, Lopriore, Piervito, Lamperti, Costanza, Klopstock, Thomas, Rahman, Shamima, Licchetta, Laura, Kornblum, Cornelia, Wortmann, Saskia B., Dollfus, Helene, Papadopoulou, Maria T., Arzimanoglou A, Scarpa, Maurizio, Graessner, Holm and Evangelista, Teresinha.

    Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

    JOURNAL OF NEUROLOGY . : . Nº de citas: 2

    [doi:10.1007/s00415-023-12017-1]

  • Schluter, Agatha, Velez-Santamaria, Valentina, Verdura, Edgard, Rodriguez-Palmero, Agusti, Ruiz, Montserrat, Fourcade, Stephane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martinez, Juan Jose, Homedes-Pedret, Christian, Alberti-Aguilo, M. Antonia, Zulaika, Miren, Marti, Itxaso, Troncoso, Monica, Tomas-Vila, Miguel, Bullich, Gemma, Garcia-Perez, M. Asuncion, Sobrido-Gomez, Maria-Jesus, Lopez-Laso, Eduardo, Fons-Estupina C, Del Toro, Mireia, Macaya, Alfons, Beltran, Sergi, Gutierrez-Solana, Luis G., Perez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo Lopez, Casasnovas, Carlos, Pujol, Aurora and HSP Ataxia Workgrp.

    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    GENOME MEDICINE . 15(1): . Nº de citas: 2

    [doi:10.1186/s13073-023-01214-2]

  • Sentmanat MK, Papadopoulou MT, Prange L, Fons-Estupina C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Huaynate JA, Stagnaro M, Megvinov A, Patel S, Arzimanoglou A, Vavassori R, Panagiotakaki E and Mikati MA.

    Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 46: 98-107. Nº de citas: 2

    [doi:10.1016/j.ejpn.2023.07.005]

  • Nabbout R, Arzimanoglou A, Auvin S, Berquin P, Desurkar A, Fuller D, Nortvedt C, Pulitano P, Rosati A, Soto V, Villanueva V and Cross JH.

    Retrospective chart review study of use of cannabidiol (CBD) independent of concomitant clobazam use in patients with Lennox-Gastaut syndrome or Dravet syndrome

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 110: 78-85. Nº de citas: 6

    [doi:10.1016/j.seizure.2023.05.003]