Publicacions
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Panagiotakaki, Eleni, Tiziano, Francesco D., Mikati, Mohamad A., Vijfhuizen, Lisanne S., Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, Harder, Aster V. E., Walley, Nicole M., De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lepine, Anne, Nassogne, Marie-Cecile, Arzimanoglou A, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H., George, Alfred L., Gurrieri, Fiorella, van den Maagdenberg, Arn M. J. M. and Heinzen, Erin L..
Exome sequencing of ATP1A3 negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
EUROPEAN JOURNAL OF HUMAN GENETICS . : . Nº de cites: 2
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Lyu, Hang, Bosselmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar JD, Aguilera-Albesa, Sergio, Nunez, Deyanira Garcia -Navas, Linnankivi, Tarja, Gaily, Eija, Ruiten, Henriette J. A. van, Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schoels, Ludger, Lerche, Holger, Moller, Rikke S. and Liu, Yuanyuan.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
EBioMedicine . 98: . Nº de cites: 5
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Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A, Blasco-Amaro JA and Ortigoza-Escobar JD.
Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series.
EUROPEAN JOURNAL OF NEUROLOGY . 30(12): 3928-3948. Nº de cites: 3
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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 cites: 2
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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 cites: 1
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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.
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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.
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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 cites: 8
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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 cites: 2
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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 cites: 1