Buscador de publicacions


  • de Fuenmayor-Fernández de la Hoz CP, Morís G, Jimenez-Mallebrera C, Badosa-Gallego MC, Hernández-Laín A, Blázquez Encinar A, Martín MÁ and Domínguez-González C.

    Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.

    Molecular genetics and metabolism reports . 26: 100701-100701.


  • Jimenez-Mallebrera C, Torelli, S., Feng, L., Kim, J., Godfrey, C., Clement, E., Mein, R., Abbs, S., Brown, S., Campbell, K., Kroger, S., Talim, B., Topaloglu, H., Quinlivan, R., Roper, H., Childs, A., Kinali, M., Sewry, C. and Muntoni, F..

    A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity

    BRAIN PATHOLOGY . 19(4): 596-611. Nº de cites: 71


  • 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: 52


  • 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: 53


  • 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: 85


  • Sewry, C, Jimenez-Mallebrera C and Muntoni, F.

    Congenital myopathies

    CURRENT OPINION IN NEUROLOGY . 21(5): 569-575. Nº de cites: 48


  • Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H and Bushby KM.

    Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

    Brain : a journal of neurology . 132: 147-155. Nº de cites: 30


  • Jimenez-Mallebrera C, Nascimento-Osorio A, Cusi V, Corbera JR, Rolland MO, Froissart R, Olivé M, Ferrer I and Colomer J.

    Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

    Histopathology . 54(6): 765-768. Nº de cites: 3


  • Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E and Muntoni F.

    Natural history of Ullrich congenital muscular dystrophy

    Neurology . 73(1): 25-31. Nº de cites: 90


  • 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: 35