Persones / Equip Humà

Cecilia Jiménez Mallebrera

Buscador de publicacions

Publicacions

  • 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 cites: 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 cites: 69

    [doi:10.1002/humu.20704]

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 26

    [doi:10.1016/j.nmd.2005.04.009]