People / Staff

Daniel Natera de Benito

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Publications

  • Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B, T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J and Graessner H.

    The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

    NATURE GENETICS . 57(10): 2361-2370. Number of citations: 3

    [doi:10.1038/s41588-025-02290-3]

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Exposito-Escudero JM, Carrera-García L, Cerezo, S, Lotz, S, Zschaeck-Luzardo I, Alejandro Luján Feliu-Pacual, Gatnau, C, Estévez-Arias B, Tizzano E and Natera-de Benito D.

    Neuromuscular diseases in pediatrics with specific treatments

    MEDICINA-BUENOS AIRES . 85: 34-40.

  • Cerezo, S, Exposito-Escudero JM, Carrera-García L, Natera-de Benito D, Nascimento-Osorio A and Ortez-Gonzalez CI.

    Immune-mediated polyneuropathies

    MEDICINA-BUENOS AIRES . 85: 41-46.

  • Foley, AR, Bolduc, V, Guirguis, F, Donkervoort, S, Hu, Y, Orbach, R, McCarty, RM, Sarathy, A, Norato, G, Cummings, BB, Lek, M, Sarkozy, A, Butterfield, RJ, Kirschner, J, Nascimento-Osorio A, Natera-de Benito D, Quijano-Roy, S, Stojkovic, T, Merlini, L, Comi, G, Ryan, M, McDonald, D, Munot, P, Yoon, G, Leung, E, Finanger, E, Leach, ME, Collins, J, Tian, CX, Mohassel, P, Neuhaus, SB, Saade, D, Cocanougher, BT, Chu, ML, Scavina, M, Grosmann, C, Richardson, R, Kossak, BD, Gospe, SM, Bhise, V, Taurina, G, Lace, B, Troncoso, M, Shohat, M, Shalata, A, Chan, SHS, Jokela, M, Palmio, J, Haliloglu, G, Jou-Munoz C, Gartioux, C, Solomon-Degefa, H, Freiburg, CD, Schiavinato, A, Zhou, HY, Aguti, S, Nevo, Y, Nishino, I, Jimenez-Mallebrera C, Lamande, SR, Allamand, V, Gualandi, F, Ferlini, A, MacArthur, DG, Wilton, SD, Wagener, R, Bertini, E, Muntoni, F and Bönnemann, CG.

    Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

    BRAIN . 148(9): 3215-3227. Number of citations: 2

    [doi:10.1093/brain/awaf116]

  • Armijo JA, Nascimento-Osorio A, Exposito-Escudero JM, Carrera-García L, Natera-de Benito D and Ortez-Gonzalez CI.

    Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology . 44(3): 96-103.

    [doi:10.36185/2532-1900-1219]

  • Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento-Osorio A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA and Kang PB.

    Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

    FEBS Journal . 292(18): 4854-4869. Number of citations: 6

    [doi:10.1111/febs.17406]

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Annals of Clinical and Translational Neurology . 12(8): 1528-1547. Number of citations: 5

    [doi:10.1002/acn3.70088]

  • Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez-Gonzalez CI, Jou-Munoz C, Martí-Carrera I, López-Marquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento-Osorio A, Gallardo E, Olive-Valls M, Gallano P and González-Quereda L.

    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

    Annals of Clinical and Translational Neurology . 12(7): 1465-1479. Number of citations: 1

    [doi:10.1002/acn3.70078]

  • Madrigal I, Villar-Vera C, Arca G, Exposito-Escudero JM, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina-Bergadà A, Estévez-Arias B, Carrera-García L, Ortez-Gonzalez CI, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento-Osorio A, Jou-Munoz C, Vilchez JJ and Natera-de Benito D.

    MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): . Number of citations: 4

    [doi:10.1111/nan.70025]

  • Carrera-García L, Exposito-Escudero JM, Ñungo Garzón NC, Pareja A, Fernández-García MA, Ortez-Gonzalez CI, Medina J, Martínez-Salcedo E, Urbano M, Grimalt MA, Munell F, García-Campos Ó, Roca S, Obdulia Moya Arcos, Estévez-Arias B, Balsells S, Frongia AL, Borràs A, Puig-Ram C, García Romero M, Calvo R, López-Lobato M, Pitarch-Castellano I, Natera-de Benito D and Nascimento-Osorio A.

    Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

    JOURNAL OF NEUROLOGY . 272(5): 331-331. Number of citations: 1

    [doi:10.1007/s00415-025-13042-y]