Persones / Equip Humà

Daniel Natera de Benito

Buscador de publicacions

Publicacions

  • Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan-Marquilles J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.

    CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Nº de cites: 12

    [doi:10.1002/ajmg.a.61122]

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

    Advances in the treatment of Duchenne muscular dystrophy

    MEDICINA-BUENOS AIRES . 79: 77-81. Nº de cites: 2

  • 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 cites: 3

  • Natera-de Benito D, Berciano J, García A, M de Lucas E, Ortez-Gonzalez CI and Nascimento-Osorio A.

    Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient.

    Journal of Clinical Neuromuscular Disease . 20(2): 100-101.

    [doi:10.1097/CND.0000000000000217]

  • 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 cites: 57

    [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 cites: 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 cites: 16

    [doi:10.1016/j.ejmg.2016.11.007]

  • Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez-Gonzalez CI, Estévez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G and Korb E.

    Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

    BRAIN . : .

    [doi:10.1093/brain/awaf212]

  • 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 . : .

    [doi:10.1002/ana.78005]