People / Staff

Jessica Maria Exposito Escudero

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Publications

  • 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.

  • 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.

  • 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]

  • 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]

  • 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 . 12(8): 1528-1547.

    [doi:10.1002/acn3.70088]

  • 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): . Number of citations: 1

    [doi:10.1111/nan.70025]

  • 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. Number of citations: 6

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

  • Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Exposito-Escudero JM, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimento-Osorio A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R and Mercuri E.

    Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.

    EUROPEAN JOURNAL OF NEUROLOGY . 31(12): . Number of citations: 3

    [doi:10.1111/ene.16517]