Personas / Equipo Humano

Daniel Natera de Benito

Buscador de publicaciones

Publicaciones

  • Araujo CRS, Hyer L, Sienko SE, Buckon C, Costa C, Natera-de Benito D, Donohoe M, Donlevie K, Emblin M, Fafara A, Sullivan JC and Dahan-Oliel N.

    Gross motor functional classification for arthrogryposis multiplex congenita: protocol for co-development involving public with lived and professional experience.

    Research Involvement and Engagement . 12(1): 19-19. Nº de citas: 1

    [doi:10.1186/s40900-025-00827-8]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

    ANNALS OF NEUROLOGY . 98(6): 1335-1351. Nº de citas: 2

    [doi:10.1002/ana.78005]

  • Puig-Ram C, Segovia S, Garcia-Uzquiano R, Ñungo Garzón NC, Aragon-Gawinska K, García Romero M, Expósito-Escudero JM, Carrera-García L, López-Lobato M, Paradas C, González Mera L, Álvarez Molinero M, Gómez Andrés D, Toro E, Fernández Ramos JA, Grimalt MA, Toledo Bravo de Laguna L, González Barrios D, Tizzano E, Cattinari MG, Medina J, Calvo Medina R, Munell F, Sotoca J, Martínez-Salcedo E, Moreno Escribano A, Povedano Panadés M, Fernández-García MA, Pitarch-Castellano I, Vázquez-Costa JF, Natera-de Benito D and Nascimento-Osorio A.

    Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project

    Journal of Neuromuscular Diseases . 12(6): 837-848. Nº de citas: 5

    [doi:10.1177/22143602251361190]

  • 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. Nº de citas: 4

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

  • 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.

  • 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.

  • Zambon AA, Klein A, Sarkozy A and Foley AR.

    283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025.

    NEUROMUSCULAR DISORDERS . 55: 106220-106220. Nº de citas: 1

    [doi:10.1016/j.nmd.2025.106220]

  • 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. Nº de citas: 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. Nº de citas: 8

    [doi:10.1111/febs.17406]