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  • Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa-Gallego MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ and Paradas C.

    Late-onset thymidine kinase 2 deficiency: a review of 18 cases

    ORPHANET JOURNAL OF RARE DISEASES . 14: 100-100. Number of citations: 40

    [doi:10.1186/s13023-019-1071-z]

  • López-Marquez A, Badosa-Gallego MC, Enjuanes-Ruiz L, Hernández-Carabias P, Sánchez-Martín M, Cadot B, Guesmia Z, Georvasilis I, Balsells S, Blanco-Ramos M, Puighermanal E, Quintana A, Roldan-Molina M, Allamand V and Jimenez-Mallebrera C.

    Generation and characterization of Col6a1 knock-in mice: A promising pre-clinical model for collagen VI-Related dystrophies.

    DISEASE MODELS & MECHANISMS . : .

    [doi:10.1242/dmm.052460]