Personas / Equipo Humano

Daniel Natera de Benito

Buscador de publicaciones

Publicaciones

  • Muhmann D, Haliloglu G, Grimalt MA, Osredkar D, Castro AV, Corredera SC, Abicht A, Yildiz AE, Böhm J, Schara-Schmidt U, Gergeli AT, Estévez-Arias B, Vicente EC, Nascimento-Osorio A, Marina AD, Natera-de Benito D and Roos A.

    Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

    EUROPEAN JOURNAL OF NEUROLOGY . 33(9): .

    [doi:10.1111/ene.70742]

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

    Patrón clínico y evolución de la enfermedad de Charcot-Marie-Tooth en pediatría.

    MEDICINA-BUENOS AIRES . 86 Suppl 3: 1-6.

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

    Fenotipos de distrofia muscular congénita.

    MEDICINA-BUENOS AIRES . 86 Suppl 3: 7-13.

  • Villar-Quiles RN, Foley AR, Metay C, Orbach R, Donkervoort S, Labella B, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Domínguez-González C, Horga A, Marti Carrera MI, Fernandez Torron R, Kurbatov S, Chausova P, Murtazina A, Subbotin D, Kuchina A, Frezzati R, Carvalho A, Waschbisch A, Allamand V, Zou Y, Richard P, Bönnemann CG and Stojkovic T.

    Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

    Journal of Neuromuscular Diseases . : .

    [doi:10.1177/22143602261453996]

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

    IMU-based workspace area as a promising complementary tool to assess upper limb function in Neuromuscular diseases: A one-year follow-up

    Journal of Neuromuscular Diseases . : .

    [doi:10.1177/22143602261464735]

  • Nematollahi S, Bouzaglo N, Sanchez VC, de-Vries JIP, Dieterich K, Fafara A, Filges I, Giampietro P, Haliloglu G, Hall J, Hilton C, Jansen R, Maestri V, Navalon C, Natera-de Benito D, Pan T, Samargian A, Sawatzky B, van Bosse H, Trainor PA and Dahan-Oliel N.

    The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS . : .

    [doi:10.1002/ajmg.c.70013]

  • 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 . 28(5): 102558-102558.

    [doi:10.1016/j.gim.2026.102558]

  • Nou-Fontanet L, Ravelli C, Burglen L, Balsells S, Valls-Villalba A, Schiffels ER, Innocenti A, Villafuerte B, Salazar-Villacorta A, Quiroz V, Sariego Jamardo A, Bonato G, Díaz-Gomez A, Afenjar A, Vilain C, da Silva Möller PD, Garcia-Navas Nuñez D, Krygier M, Molnar MJ, Milanowski L, Õunap K, Pauni M, Vega P, Borie R, Villamil-Osorio M, Yilmaz S, Zádori D, Zawadzka M, Barakat TS, Neuens S, Natera-de Benito D, Casas-Alba D, Soliani L, de Gusmao CM, Garone G, Specchio N, Carecchio M, Moreno JC, Magrinelli F, Bhatia KP, Ebrahimi-Fakhari D, Castiglioni C, Kurian MA, Carvalho JN, Pons R, Roze E, Doummar D and Ortigoza-Escobar JD.

    International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

    MOVEMENT DISORDERS . 41(4): 889-900. Nº de citas: 5

    [doi:10.1002/mds.70187]

  • 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 . 149(1): 343-359. Nº de citas: 6

    [doi:10.1093/brain/awaf212]

  • Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.

    Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

    Annals of Clinical and Translational Neurology . 13(1): 108-121.

    [doi:10.1002/acn3.70206]