Personas / Equipo Humano

Daniel Natera de Benito

Buscador de publicaciones

Publicaciones

  • Natera-de Benito D, Ortez-Gonzalez CI, Carrera García L, Expósito J, Bobadilla E and Nascimento-Osorio A.

    Diagnosis and treatment of congenital myopaties

    MEDICINA-BUENOS AIRES . 79: 82-86. Nº de citas: 3

  • 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]

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

    Current status of congenital myasthenic syndromes

    REVISTA DE NEUROLOGIA . 65(4): 161-176. Nº de citas: 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. Nº de citas: 16

    [doi:10.1016/j.ejmg.2016.11.007]

  • 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 . : .

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

  • Ramdas S, Dong YY, Munot P, Natera-de Benito D, Nascimento-Osorio A, Maggi L, Bönnemann CG, McAnally M, Schara-Schmidt U, Della Marina A, Kostera-Pruszczyk A, Milone M, Evoli A, Jungbluth H, Lochmüller H, Beeson D, Reddel S and Palace J.

    Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?

    BRAIN . : .

    [doi:10.1093/brain/awag035]

  • Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera-de Benito D, Maroofian R and Tartaglia M.

    Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

    GENETICS IN MEDICINE . : 102558-102558.

    [doi:10.1016/j.gim.2026.102558]