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Publicaciones

  • 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]

  • 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 . : .

    [doi:10.1002/acn3.70078]

  • 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): .

    [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 citas: 3

    [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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 6

    [doi:10.3233/JND-230012]

  • Goyenvalle A, Jimenez-Mallebrera C, van Roon W, Sewing S, Krieg AM, Arechavala-Gomeza V and Andersson P.

    Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides

    NUCLEIC ACID THERAPEUTICS . 33(1): 1-16. Nº de citas: 37

    [doi:10.1089/nat.2022.0061]

  • Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Pathological Features in Paediatric Patients with TK2 Deficiency

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Nº de citas: 3

    [doi:10.3390/ijms231911002]