People / Staff

Cecilia Jiménez Mallebrera

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Publications

  • Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.

    Coenzyme Q(10) deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion . 13(4): 337-341. Number of citations: 46

    [doi:10.1016/j.mito.2013.04.001]

  • Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou-Munoz C, Nascimento-Osorio A, Jimenez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M and Gallano P.

    Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

    PLoS One . 8(3): 59916. Number of citations: 31

    [doi:10.1371/journal.pone.0059916]

  • Juan-Mateu J, Rodríguez MJ, Nascimento-Osorio A, Jimenez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou-Munoz C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M and Gallano P.

    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

    ORPHANET JOURNAL OF RARE DISEASES . 7: 82-82. Number of citations: 28

    [doi:10.1186/1750-1172-7-82]

  • Paco-Mercader S, Ferrer I, Jou-Munoz C, Cusi V, Corbera J, Torner-Rubies F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-kappa B Signaling

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 71(10): 894-906. Number of citations: 21

    [doi:10.1097/NEN.0b013e31826c6f7b]

  • Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A and Lochmüller H.

    Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

    JOURNAL OF NEUROLOGY . 259(5): 838-850. Number of citations: 61

    [doi:10.1007/s00415-011-6262-z]

  • Jimenez-Mallebrera C, Paco-Mercader S, Kalko S, Jou-Munoz C, Rodríguez-García MA, Cusi V, Joan R. Corbera Torredeflò, Colomer J, Nascimento-Osorio A and Torner-Rubies F.

    Perfil de expresión génica en la distrofia muscular congénita de Ullrich

    REVISTA DE NEUROLOGIA . 2012(27): 155-312.

  • Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA and Muntoni F.

    Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

    NEUROMUSCULAR DISORDERS . 22(2): 139-148. Number of citations: 19

    [doi:10.1016/j.nmd.2011.08.006]

  • Mormeneo E, Jimenez-Mallebrera C, Palomer X, De Nigris V, Vázquez-Carrera M, Orozco A, Nascimento-Osorio A, Colomer J, Lerin C and Gómez-Foix AM.

    PGC-1 alpha Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells

    PLoS One . 7(1): . Number of citations: 41

    [doi:10.1371/journal.pone.0029985]

  • Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A and Lochmüller H.

    Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

    AMERICAN JOURNAL OF HUMAN GENETICS . 88(2): 162-172. Number of citations: 114

    [doi:10.1016/j.ajhg.2011.01.008]

  • Jimenez-Mallebrera C, Torelli, S., Feng, L., Kim, J., Godfrey, C., Clement, E., Mein, R., Abbs, S., Brown, S., Campbell, K., Kroger, S., Talim, B., Topaloglu, H., Quinlivan, R., Roper, H., Childs, A., Kinali, M., Sewry, C. and Muntoni, F..

    A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity

    BRAIN PATHOLOGY . 19(4): 596-611. Number of citations: 79

    [doi:10.1111/j.1750-3639.2008.00198.x]