Publicaciones
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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
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Sentmanat MK, Papadopoulou MT, Prange L, Fons-Estupina C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Anticona-Huaynate J, 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
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Paliotti, K, Dassi, C, Berrahmoune, S, Bejaran, ML, Carlos Valera Dávila, Borras-Martinez A, Fons-Estupina C, Mancardi, MM, Riva, A, Giacomini, T, Severino, M, Romaniello, R, Dubeau, F, Srour, M and Myers, KA.
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
JOURNAL OF NEUROLOGY . 270(8): 3934-3945. Nº de citas: 6
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Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
PEDIATRIC NEUROLOGY . 144: 11-15. Nº de citas: 1
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Brunklaus A, Brünger T, Feng T, Fons-Estupina C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M and Cestèle S.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
BRAIN . 145(11): 3816-3831. Nº de citas: 82
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Chávez López EK, Aparicio J, Carlos Valera Dávila, Campistol-Plana J, Ramírez-Camacho A, Fons-Estupina C and Arzimanoglou A.
Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 41: 55-62. Nº de citas: 2
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Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Nº de citas: 9
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Nº de citas: 12
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Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
PEDIATRIC NEUROLOGY . 128: 16-19. Nº de citas: 2
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García-Hernández JL, Corchete LA, Marcos-Alcalde Í, Gómez-Puertas P, Fons-Estupina C and Lazo PA.
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
HUMAN GENOMICS . 15(1): 11-11. Nº de citas: 4