Personas / Equipo Humano

Jana Domínguez Carral

Buscador de publicaciones

Publicaciones

  • Aguilera, C, Gabau, E, Ramirez-Mallafré, A, Brun-Gasca, C, Domínguez-Carral J, Delgadillo, V, Laurie, S, Derdak, S, Padilla, N, de la Cruz, X, Capdevila, N, Spataro, N, Baena, N, Guitart, M and Ruiz, A.

    New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

    PLoS One . 16(10): . Nº de citas: 15

    [doi:10.1371/journal.pone.0258766]

  • Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.

    Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

    EPILEPSIA . 61(5): 971-983. Nº de citas: 24

    [doi:10.1111/epi.16493]

  • Garone C, Taylor RW, Nascimento-Osorio A, Poulton J, Fratter C, Dominguez-Gonzalez C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Camara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez-Gonzalez CI, Emperador S, Montoya C, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S and Hirano M.

    Retrospective natural history of thymidine kinase 2 deficiency

    JOURNAL OF MEDICAL GENETICS . 55(8): 515-521. Nº de citas: 90

    [doi:10.1136/jmedgenet-2017-105012]

  • Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez-Gonzalez CI, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho Díaz JA, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H and Nascimento-Osorio A.

    Molecular characterization of congenital myasthenic syndromes in Spain

    NEUROMUSCULAR DISORDERS . 27(12): 1087-1098. Nº de citas: 67

    [doi:10.1016/j.nmd.2017.08.003]

  • Maraña Pérez AI, Ruiz-Falcó Rojas ML, Puertas Martín V, Domínguez-Carral J, Carreras Sáez I, Duat Rodríguez A and Sánchez González V.

    Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables

    NEUROLOGIA . 32(6): 363-370. Nº de citas: 20

    [doi:10.1016/j.nrl.2015.12.012]

  • Domínguez-Carral J, López-Pisón, J, Alfons Macaya, Campaña, MB, García-Pérez, MA and Natera-de Benito D.

    Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices

    European Journal of Medical Genetics . 60(2): 124-129. Nº de citas: 16

    [doi:10.1016/j.ejmg.2016.11.007]

  • Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento-Osorio A, Ortez-Gonzalez CI, Jaijo T, Arteaga R, Colomer J and Vilchez JJ.

    Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

    NEUROMUSCULAR DISORDERS . 26(11): 789-795. Nº de citas: 21

    [doi:10.1016/j.nmd.2016.08.005]

  • Maraña Pérez AI, Duat Rodríguez A, Soto Insuga V, Domínguez-Carral J, Puertas Martín V and González Gutiérrez Solana L.

    Prevalence of sleep disorders in patients with neurofibromatosis type 1

    NEUROLOGIA . 30(9): 561-565. Nº de citas: 16

    [doi:10.1016/j.nrl.2014.04.015]

  • Domínguez-Carral J, Puertas-Martín, V, Carreras-Sáez, I, Maraña-Pérez, AI, Escobar-Delgado, T and García-Peñas, JJ.

    Neurological symptoms in children with intussusception

    ANALES DE PEDIATRIA . 80(5): 293-298. Nº de citas: 7

    [doi:10.1016/j.anpedi.2013.06.034]

  • García-Peñas, JJ, Fournier-Del Castillo, MC and Domínguez-Carral J.

    Epilepsy and cognition: the role of antiepileptic drugs

    REVISTA DE NEUROLOGIA . 58: 37-42. Nº de citas: 14

    [doi:10.33588/rn.58S01.2013569]