People / Staff

Cecilia Jiménez Mallebrera

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Publications

  • 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: 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): . Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 39

    [doi:10.1093/brain/awn289]

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

    Congenital myopathies

    CURRENT OPINION IN NEUROLOGY . 21(5): 569-575. Number of citations: 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. Number of citations: 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. Number of citations: 69

    [doi:10.1002/humu.20704]