Persones / Equip Humà

Cecilia Jiménez Mallebrera

Buscador de publicacions

Publicacions

  • 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: 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. Nº de cites: 123

    [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: 52

    [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 a-dystroglycan expression in MDC1C and LGMD21 muscular dystrophies

    AMERICAN JOURNAL OF PATHOLOGY . 164(2): 727-737. Nº de cites: 143

    [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

  • 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 a-dystroglycan

    HUMAN MOLECULAR GENETICS . 12(21): 2853-2861. Nº de cites: 366

    [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: 71

    [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: 16

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