People / Staff

Daniel Natera de Benito

Search publications

Publications

  • 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. Number of citations: 73

    [doi:10.1016/j.nmd.2017.08.003]

  • Bestue-Cardiel M and Natera-de Benito D.

    Current status of congenital myasthenic syndromes

    REVISTA DE NEUROLOGIA . 65(4): 161-176. Number of citations: 5

    [doi:10.33588/rn.6504.2016423]

  • 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. Number of citations: 16

    [doi:10.1016/j.ejmg.2016.11.007]

  • Capece G, Di Feo MF, Melnik E, Dadali E, Markova T, Verloes A, Ruscitti F, Lévy J, Natera-de Benito D, Ortez-Gonzalez CI, Nascimiento A, Estévez-Arias B, Jou-Munoz C, Kurbatov S, Murtazina A, Sharkov A, Elkhateeb N, ElNaggar W, Faletra F, Mio C, Schymick J, Calvert P, Alanay Y, Isik E, Yildiz B, Bakhtiari S, Kruer MC, Roos A, Kölbel H, Darvish H, Vosoogh S, Chouery E, Mehawej C, Mégarbané A, Andoni Urtizberea J, Senghor HVF, Ndiaye M, Rodriguez Cruz PM, Bello L, Pegoraro E, Udd B and Savarese M.

    Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

    BRAIN . : .

    [doi:10.1093/brain/awag249]

  • Estévez-Arias B, Segarra-Casas A, Seoane P, Romo L, Polavarapu K, Nectoux J, Caballero-Ávila M, Austin-Tse C, Konyukh M, Obeid K, Hinderhofer K, Aksel-Kilicarslan O, Matalonga L, Rojano E, Ranea JA, O'Heir E, Singer-Berk M, O'Leary M, O'Donnell-Luria A, Spinazzi M, Verebi C, Leturcq F, Van Den Bergh P, Specht S, de Luna N, de Castro M, Roggenbuck J, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Ortez-Gonzalez CI, Llansó L, Hernández-Laín A, Straub V, Gallano P, Nascimento-Osorio A, Evangelista T, Olivé M, Domínguez-González C, Lochmüller H, Malfatti E, Töpf A, Gallardo E, González-Quereda L and Natera-de Benito D.

    A Recurrent 3'UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies.

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78381]

  • Gangfuß A, Gowda VK, Natera-de Benito D, Munot P, Vanegas M, Darling A, Reutlinger C, Carrera-García L, Wunderlich G, Kölbel H, Stüve B, Muhmann D, Monfort Belenguer L, Barca DG, Reddy C VS, Srinivasan VM, Anguita CM, Jungbluth H, Dafsari HS, Rossor T, Böhm J, Schara-Schmidt U and Roos A.

    Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients.

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70561]