Personas / Equipo Humano

Cecilia Jiménez Mallebrera

Buscador de publicaciones

Publicaciones

  • Sahin, C, Formica, TM, Silva, A, Della Pelle, G, Davis, MC, Andersen, DG, Çavdar, M, Santos, L, Qiu, LY, Olsen, AL, Askou, AL, Köber, M, Jimenez-Mallebrera C, Gutiérrez, MC, Soerensen, JF, Martín, F, Bak, RO, Sendemir, A, Río, P, Cavazza, A, Benabdellah, K, Nair, RR and Luo, YL.

    The landscape and trajectory of global CRISPR therapeutics

    Molecular Therapy Nucleic Acids . 37(3): .

    [doi:10.1016/j.omtn.2026.103011]

  • 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]

  • Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M.

    The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.

    COMPUTERS IN BIOLOGY AND MEDICINE . 196(Pt A): 110610-110610. Nº de citas: 1

    [doi:10.1016/j.compbiomed.2025.110610]

  • Foley, AR, Bolduc, V, Guirguis, F, Donkervoort, S, Hu, Y, Orbach, R, McCarty, RM, Sarathy, A, Norato, G, Cummings, BB, Lek, M, Sarkozy, A, Butterfield, RJ, Kirschner, J, Nascimento-Osorio A, Natera-de Benito D, Quijano-Roy, S, Stojkovic, T, Merlini, L, Comi, G, Ryan, M, McDonald, D, Munot, P, Yoon, G, Leung, E, Finanger, E, Leach, ME, Collins, J, Tian, CX, Mohassel, P, Neuhaus, SB, Saade, D, Cocanougher, BT, Chu, ML, Scavina, M, Grosmann, C, Richardson, R, Kossak, BD, Gospe, SM, Bhise, V, Taurina, G, Lace, B, Troncoso, M, Shohat, M, Shalata, A, Chan, SHS, Jokela, M, Palmio, J, Haliloglu, G, Jou-Munoz C, Gartioux, C, Solomon-Degefa, H, Freiburg, CD, Schiavinato, A, Zhou, HY, Aguti, S, Nevo, Y, Nishino, I, Jimenez-Mallebrera C, Lamande, SR, Allamand, V, Gualandi, F, Ferlini, A, MacArthur, DG, Wilton, SD, Wagener, R, Bertini, E, Muntoni, F and Bönnemann, CG.

    Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

    BRAIN . 148(9): 3215-3227. Nº de citas: 2

    [doi:10.1093/brain/awaf116]

  • Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez-Gonzalez CI, Jou-Munoz C, Martí-Carrera I, López-Marquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento-Osorio A, Gallardo E, Olive-Valls M, Gallano P and González-Quereda L.

    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

    Annals of Clinical and Translational Neurology . 12(7): 1465-1479. Nº de citas: 1

    [doi:10.1002/acn3.70078]

  • Osegui-Barcenilla N, Sendino M, Martín-González S, González-Moro I, Benito-Agustino A, Torres-Conde N, López-Martínez A, Jimenez-Mallebrera C, López-Marquez A and Arechavala-Gomeza V.

    Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): .

    [doi:10.1111/nan.70020]

  • White T, López-Marquez A, Badosa-Gallego MC, Jimenez-Mallebrera C, Samitier J, Giannotti MI and Lagunas A.

    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): 20240860-20240860. Nº de citas: 2

    [doi:10.1098/rsif.2024.0860]

  • Cavazza, A, Molina-Estévez, FJ, Reyes, AP, Ronco, V, Naseem, A, Malensek, S, Pecan, P, Santini, A, Heredia, P, Aguilar-González, A, Boulaiz, H, Ni, QQ, Cortijo-Gutierrez, M, Pavlovic, K, Herrera, I, de la Cerda, B, Garcia-Tenorio, EM, Richard, E, Granados-Principal, S, López-Marquez A, Köber, M, Stojanovic, M, Vidakovic, M, Santos-Garcia, I, Blázquez, L, Haughton, E, Yan, DN, Sánchez-Martín, RM, Mazini, L, Aseguinolaza, GG, Miccio, A, Rio, P, Desviat, LR, Gonçalves, MAFV, Peng, L, Jimenez-Mallebrera C, Molina, FM, Gupta, D, Lainscek, D, Luo, YL 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): . Nº de citas: 55

    [doi:10.1016/j.omtn.2025.102457]

  • 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.

    Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies

    Disease Models & Mechanisms . 19(1): . Nº de citas: 1

    [doi:10.1242/dmm.052460]

  • Justel M, Jou-Munoz C, Sariego-Jamardo A, Julià-Palacios NA, Ortez-Gonzalez CI, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina-Bergadà A, Domínguez-Carral J, Muchart-Lopez J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estévez-Arias B, Musokhranova U, Olivella M, De Oyarzabal-Sanz AL, Jimenez-Mallebrera C, Domínguez-González C, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973. Nº de citas: 14

    [doi:10.1136/jmg-2022-109132]