Persones / Equip Humà

Cecilia Jiménez Mallebrera

Buscador de publicacions

Publicacions

  • 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: 73

    [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: 26

    [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 alpha 2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

    NEUROMUSCULAR DISORDERS . 15(9-10): 588-594. Nº de cites: 24

    [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. Nº de cites: 21

    [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. Nº de cites: 102

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

  • Torelli S, Brown SC, Jimenez-Mallebrera C, Feng L, Muntoni F and Sewry CA.

    Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 30(5): 540-545. Nº de cites: 45

    [doi:10.1111/j.1365-2990.2004.00561.x]

  • Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T and Muntoni F.

    Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease

    Archives of Neurology . 61(8): 1301-1306. Nº de cites: 14

    [doi:10.1001/archneur.61.8.1301]

  • Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, Sewry CA, Flanigan KM, Bushby K and Muntoni F.

    Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

    PRENATAL DIAGNOSIS . 24(6): 440-444. Nº de cites: 14

    [doi:10.1002/pd.902]

  • Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez-Mallebrera C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C and Muntoni F.

    Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD21 muscular dystrophies

    AMERICAN JOURNAL OF PATHOLOGY . 164(2): 727-737. Nº de cites: 116

    [doi:10.1016/S0002-9440(10)63160-4]

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

    Immunopathology and molecular genetics of dystrophinopathies.

    Supplements to Clinical neurophysiology . 57: 313-21. Nº de cites: 1