Personas / Equipo Humano

Maria del Carmen Fons Estupiña

Buscador de publicaciones

Publicaciones

  • 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

    [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. Nº de citas: 6

    [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: 64

    [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]

  • 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: 7

    [doi:10.1111/dmcn.15140]

  • 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: 9

    [doi:10.1111/cge.14113]

  • 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

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • 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

    [doi:10.1186/s40246-021-00309-4]

  • Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons-Estupina C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, Arzimanoglou A, Panagiotakaki E, Mikati MA, Duke AHC Research Group and French AHC Consortium.

    Alternating hemiplegia of childhood: evolution over time and mouse model corroboration

    brain communications . 3(3): . Nº de citas: 10

    [doi:10.1093/braincomms/fcab128]