Personas / Equipo Humano

Cecilia Jiménez Mallebrera

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 22

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

    PLoS One . 7(1): . Nº de citas: 55

    [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. Nº de citas: 129

    [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, SC, Campbell, KP, Kroger, S., Talim, B, Topaloglu, H, Quinlivan, R, Roper, H, Childs, AM, Kinali, M, Sewry, CA and Muntoni, F.

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

    BRAIN PATHOLOGY . 19(4): 596-611. Nº de citas: 95

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

  • Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E and Muntoni F.

    Natural history of Ullrich congenital muscular dystrophy

    Neurology . 73(1): 25-31. Nº de citas: 113

    [doi:10.1212/WNL.0b013e3181aae851]

  • Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H and Bushby KM.

    Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

    BRAIN . 132: 147-155. Nº de citas: 39

    [doi:10.1093/brain/awn289]

  • Sewry, CA, Jimenez-Mallebrera C and Muntoni, F.

    Congenital myopathies

    CURRENT OPINION IN NEUROLOGY . 21(5): 569-575. Nº de citas: 51

    [doi:10.1097/WCO.0b013e32830f93c7]

  • Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F and Robb SA.

    Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

    JOURNAL OF NEUROIMMUNOLOGY . 201: 6-12. Nº de citas: 108

    [doi:10.1016/j.jneuroim.2008.06.026]

  • Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM and Bönnemann CG.

    Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

    HUMAN MUTATION . 29(6): 809-822. Nº de citas: 69

    [doi:10.1002/humu.20704]