Persones / Equip Humà

Daniel Natera de Benito

Buscador de publicacions

Publicacions

  • 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 C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, 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 H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé 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 . : .

    [doi:10.1093/brain/awaf116]

  • 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.

    [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): .

    [doi:10.1111/nan.70025]

  • 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 . : .

    [doi:10.1002/acn3.70088]

  • 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.

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

  • Favata A, Gallart-Agut R, van Noort L, Exposito-Escudero JM, Medina J, Torras C, Natera-de Benito D, Font-Llagunes JM and Pàmies R.

    Imu-based kinematic analysis to enhance upper limb motor function assessment in neuromuscular diseases

    JOURNAL OF NEUROENGINEERING AND REHABILITATION . 22(1): 63-63.

    [doi:10.1186/s12984-025-01602-2]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

    EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de cites: 4

    [doi:10.1038/s41431-024-01699-4]

  • Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, Kölbel H, Nascimento-Osorio A, Ortez-Gonzalez CI, Abicht A, Thakur BK, Lochmüller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A and Roos A.

    Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome

    Acta neuropathologica communications . 13(1): 29-29.

    [doi:10.1186/s40478-025-01946-9]

  • 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 . : .

    [doi:10.1111/febs.17406]

  • Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM and Laurie S.

    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

    npj Genomic Medicine . 9(1): 49-49.

    [doi:10.1038/s41525-024-00436-6]