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Investigació aplicada en malalties neuromusculars

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Publicacions

  • Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.

    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome

    CLINICAL GENETICS . 107(6): 646-662.

    [doi:10.1111/cge.14701]

  • 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]

  • Xunclà M, Sánchez-Durán MÁ, Rey N, Serrano M, Martínez PA, Trobo L, Camacho Soriano J, Plaja A, Castells-Sarret N, Rigola MÀ, García-Arumí E and Tizzano E.

    Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation

    HUMAN REPRODUCTION . 40(5): 962-970. Nº de cites: 1

    [doi:10.1093/humrep/deaf038]

  • Zwartkruis MM, Elferink MG, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens IJ, Green JW, Kortooms JV, Vermeulen C, Straver R, van Deutekom HWM, Veldink JH, Asselman F, Tizzano E, Wadman RI, van der Pol WL, van Haaften GW and Groen EJN.

    Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

    GENOME MEDICINE . 17(1): 26-26. Nº de cites: 1

    [doi:10.1186/s13073-025-01448-2]

  • 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]

  • Moreno, CAM, Artilheiro, MC, Fonseca, ATQSM, da Silva, AMS, Fernandes, TR, Camelo, CG, Paiva, MA, di Pace, FT, Pessoa, ALS, Braga, VLL, Mariano, TC, Estephan, ED, Morita, MD, Covaleski, APPM, van der Linden, V, Tomaselli, PJ, Scarpellini, GR, Gurgel-Giannetti, J, Sobrinho, LMF, de Oliveira, TM, Mendonca, RH, Lucas, ELS, Cruzeiro, MM, Junior, CWP, Junior, WM, Sobreira, CFD, Oliveira, ASB, Kok, F, Hirano, M, Nascimento-Osorio A, Schlesinger, D and Zanoteli, E.

    Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort

    SCIENTIFIC REPORTS . 15(1): .

    [doi:10.1038/s41598-024-84373-5]

  • White, Tom, López-Marquez A, Badosa, Carmen, Jimenez-Mallebrera C, Samitier, Josep, Giannotti, Marina Ines and Lagunas, Anna.

    Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies

    JOURNAL OF THE ROYAL SOCIETY INTERFACE . 22(224): . Nº de cites: 1

    [doi:10.1098/rsif.2024.0860]

  • Cavazza A, Molina-Estévez FJ, Plaza-Reyes A, Ronco V, Naseem A, Malensek S, Pecan P, Santini A, Heredia P, Aguilar-González A, Boulaiz H, NI Q, Cortijo-Gutierrez M, Pavlovic K, Herrera I, de la Cerda B, García-Tenorio EM, Richard E, Granados-Principal S, López-Marquez A, Kober M, Stojanovic M, Vidakovic M, Santos-Garcia I, Blazquez L, Haugthon E, Yan D, Sanchez-Martin RM, Mazini L, Gonzalez-Aseguinolaza G, Miccio A, Rio P, Desviat LR, Gonçalves M, Peng L, Jimenez-Mallebrera C, Martin-Molina F, Gupta D, Lainscek D, Luo Y and Benabdellah K.

    Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group

    MOLECULAR THERAPY NUCLEIC ACIDS . 36(1): 102457. Nº de cites: 7

    [doi:10.1016/j.omtn.2025.102457]

  • 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]