Publicacions
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Hinojosa J, Candela-Cantó SA, Becerra V, Muchart-Lopez J, Gómez-Chiari M, Rumia J and Aparicio J.
Multimodal Approach for the Treatment of Complex Hypothalamic Hamartomas.
Advances and technical standards in neurosurgery . 50: 119-145.
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Zhang D, Bo K, Montejo R, Sánchez-Polán M, Silva-José C, Palacio-Navarro A and Barakat R.
Influence of pelvic floor muscle training alone or as part of a general physical activity program during pregnancy on urinary incontinence, episiotomy and third- or fourth-degree perineal tear: Systematic review and meta-analysis of randomized clinical trials
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA . : .
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Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Schreiber R, Ortigoza-Escobar JD and Kunzelmann K.
Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.
BRAIN . : .
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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 . : .
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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: .
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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.
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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.
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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): .
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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.