Personas / Equipo Humano

Maria del Carmen Fons Estupiña

Buscador de publicaciones

Publicaciones

  • Saez-Matia A, Ibarluzea MG, M-Alicante S, Muguruza-Montero A, Nuñez E, Ramis R, Ballesteros OR, Lasa-Goicuria D, Fons-Estupina C, Gallego M, Casis O, Leonardo A, Bergara A and Villarroel A.

    MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(5): .

    [doi:10.3390/ijms25052910]

  • 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.

    [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]

  • Patel, Shital H., Panagiotakaki, Eleni, Papadopoulou, Maria T., Fons-Estupina C, De Grandis, Elisa, Vezyroglou, Aikaterini, Balestrini, Simona, Hong, Hwanhee, Liu, Beiyu, Prange, Lyndsey, Arzimanoglou A, Vavassori, Rosaria and Mikati, Mohamad A..

    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]

  • 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): .

    [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: 1

    [doi:10.1016/j.ejpn.2023.07.005]

  • 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.

    [doi:10.1007/s00415-023-11724-z]

  • 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.

    [doi:10.1016/j.pediatrneurol.2023.03.004]

  • 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: 23

    [doi:10.1093/brain/awac210]

  • 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.

    [doi:10.1016/j.ejpn.2022.10.001]