People / Staff

Cecilia Jiménez Mallebrera

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Publications

  • Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H and Muntoni F.

    Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant

    Archives of Neurology . 65(1): 137-141. Number of citations: 68

    [doi:10.1001/archneurol.2007.2]

  • Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA and Brown SC.

    Muscular dystrophies due to defective glycosylation of dystroglycan.

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology . 26(3): 129-35. Number of citations: 41

  • Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S and Muntoni F.

    Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

    BRAIN . 130: 2725-2735. Number of citations: 320

    [doi:10.1093/brain/awm212]

  • Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA and Muntoni F.

    A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

    NEUROMUSCULAR DISORDERS . 17(2): 174-179. Number of citations: 25

    [doi:10.1016/j.nmd.2006.11.002]

  • Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S and Muntoni F.

    Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

    ANNALS OF NEUROLOGY . 60(5): 603-610. Number of citations: 114

    [doi:10.1002/ana.21006]

  • Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA and Muntoni F.

    A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

    NEUROMUSCULAR DISORDERS . 16(9-10): 571-582. Number of citations: 82

    [doi:10.1016/j.nmd.2006.07.015]

  • Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez-Mallebrera C, Skordis L, Feng LH, Merlini L, Jones DH, Romero N, Wewer U, Voit T, Sewry CA, Noguchi S, Nishino I and Muntoni F.

    Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

    NEUROMUSCULAR DISORDERS . 15(12): 836-843. Number of citations: 29

    [doi:10.1016/j.nmd.2005.09.004]

  • Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P and Tomé FM.

    Prenatal diagnosis in laminin a2 chain (merosin)-deficient congenital muscular dystrophy:: A collective experience of five international centers

    NEUROMUSCULAR DISORDERS . 15(9-10): 588-594. Number of citations: 26

    [doi:10.1016/j.nmd.2005.04.009]

  • Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G and Chu ML.

    A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy

    HUMAN GENETICS . 117(5): 460-466. Number of citations: 23

    [doi:10.1007/s00439-005-1318-8]

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

    Congenital muscular dystrophy: molecular and cellular aspects

    CELLULAR AND MOLECULAR LIFE SCIENCES . 62(7-8): 809-823. Number of citations: 122

    [doi:10.1007/s00018-004-4510-4]