Persones / Equip Humà

Cecilia Jiménez Mallebrera

Buscador de publicacions

Publicacions

  • Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC and Muntoni F.

    Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

    HUMAN MOLECULAR GENETICS . 12(21): 2853-2861. Nº de cites: 320

    [doi:10.1093/hmg/ddg307]

  • Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, Messina S, Kinali M, Brown SC, Jimenez-Mallebrera C, Brockington M, Yuva Y, Sewry CA and Muntoni F.

    Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

    NEUROMUSCULAR DISORDERS . 13(7-8): 554-558. Nº de cites: 58

    [doi:10.1016/S0960-8966(03)00091-9]

  • Jimenez-Mallebrera C, Davies K, Putt W and Edwards YH.

    A study of short utrophin isoforms in mice deficient for full-length utrophin

    MAMMALIAN GENOME . 14(1): 47-60. Nº de cites: 12

    [doi:10.1007/s00335-002-3044-z]

  • Jimenez-Mallebrera C, Torelli S, Brown SC, Feng L, Brockington M, Sewry CA, Beltrán-Valero De Bernabé D and Muntoni F.

    Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 7(3): 129-137. Nº de cites: 28

    [doi:10.1016/S1090-3798(03)00042-4]

  • Wilson J, Putt W, Jimenez-Mallebrera C and Edwards YH.

    Up71 and Up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin

    HUMAN MOLECULAR GENETICS . 8(7): 1271-1278. Nº de cites: 36

    [doi:10.1093/hmg/8.7.1271]