People / Staff

Cecilia Jiménez Mallebrera

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Publications

  • Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez-Gonzalez CI, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras-Palleja D, Kalko-Witruk SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya C, Ruiz-Pesini E, Villarroya-Terrade J, Montero-Sanchez R, Villarroya-Gombau F, Artuch-Iriberri R, Hirano M, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    SCIENTIFIC REPORTS . 10(1): 10111-10111. Number of citations: 20

    [doi:10.1038/s41598-020-66940-8]

  • Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias-Jimenez E, Meade P, Jimenez-Mallebrera C, Montoya C, Bayona-Bafaluy MP and Ruiz-Pesini E.

    Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(9): . Number of citations: 7

    [doi:10.3390/ijms21093374]

  • Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.

    Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

    Epilepsia . 61(5): 971-983. Number of citations: 16

    [doi:10.1111/epi.16493]

  • Trifunov S, Natera-de Benito D, Exposito Escudero JM, Ortez-Gonzalez CI, Medina J, Cuadras-Palleja D, Badosa C, Carrera L, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

    FRONTIERS IN NEUROLOGY . 11: 304-304. Number of citations: 14

    [doi:10.3389/fneur.2020.00304]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Number of citations: 41

    [doi:10.1002/jimd.12156]

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

    A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies

    APPLIED SOFT COMPUTING . 85: 105772. Number of citations: 5

    [doi:10.1016/j.asoc.2019.105772]

  • Milev MP, Stanga D, Schänzer A, Nascimento-Osorio A, Saint-Dic D, Ortez-Gonzalez CI, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou-Munoz C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M and Jimenez-Mallebrera C.

    Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

    SCIENTIFIC REPORTS . 9: 14036-14036. Number of citations: 13

    [doi:10.1038/s41598-019-50415-6]

  • Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento-Osorio A, Kalko SG, Sardina MD, Del Vayo CÁ, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C and Hirano M.

    Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

    ANNALS OF NEUROLOGY . 86(2): 293-303. Number of citations: 72

    [doi:10.1002/ana.25506]

  • Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.

    CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Number of citations: 12

    [doi:10.1002/ajmg.a.61122]

  • 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: 31

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