People / Staff

Cecilia Jiménez Mallebrera

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Publications

  • 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.

    [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 C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, 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 H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé 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 . : .

    [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.

    [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, 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): . Number of citations: 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. Number of citations: 7

    [doi:10.1016/j.omtn.2025.102457]

  • 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. Number of citations: 10

    [doi:10.1136/jmg-2022-109132]

  • Badosa-Gallego MC, Roldan-Molina M, Fernández-Irigoyen J, Santamaria E and Jimenez-Mallebrera C.

    Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility

    SCIENTIFIC REPORTS . 13(1): 14622-14622. Number of citations: 4

    [doi:10.1038/s41598-023-41632-1]

  • Codina-Bergadà A, Roldan-Molina M, Natera-de Benito D, Ortez-Gonzalez CI, Planas R, Matalonga L, Cuadras-Palleja D, Carrera-García L, Exposito-Escudero JM, Márquez-Pereira JM, Jimenez-Mallebrera C, M Porta J, Nascimento-Osorio A and Jou-Munoz C.

    Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): .

    [doi:10.3390/ijms24076358]

  • Trifunov S, Natera-de Benito D, Carrera-García L, Codina-Bergadà A, Exposito-Escudero JM, Ortez-Gonzalez CI, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa-Gallego MC, Balsells S, Alcolea D, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

    Journal of neuromuscular diseases . 10(4): 653-665. Number of citations: 6

    [doi:10.3233/JND-230012]