Showing 1 - 6 results of 6 for search 'Jimenez-Mallebrera, C', query time: 0.03s
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gene mutations in steroid-responsive limb girdle muscular dystrophy by Godfrey, C, Escolar, D, Brockington, M, Clement, E, Mein, R, Jimenez-Mallebrera, C, Torelli, S, Feng, L, Brown, S, Sewry, C, Rutherford, M, Shapira, Y, Abbs, S, Muntoni, F
Published 2006Journal article -
2
Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant by Clement, E, Godfrey, C, Tan, J, Brockington, M, Torelli, S, Feng, L, Brown, S, Jimenez-Mallebrera, C, Sewry, C, Longman, C, Mein, R, Abbs, S, Vajsar, J, Schachter, H, Muntoni, F
Published 2008Journal article -
3
Congenital myasthenic syndromes in childhood: diagnostic and management challenges. by Kinali, M, Beeson, D, Pitt, M, Jungbluth, H, Simonds, A, Aloysius, A, Cockerill, H, Davis, T, Palace, J, Manzur, A, Jimenez-Mallebrera, C, Sewry, C, Muntoni, F, Robb, SA
Published 2008Journal article -
4
A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Seve... by Jimenez-Mallebrera, C, Torelli, S, Feng, L, Kim, J, Godfrey, C, Clement, E, Mein, R, Abbs, S, Brown, S, Campbell, K, Kröger, S, Talim, B, Topaloglu, H, Quinlivan, R, Roper, H, Childs, A, Kinali, M, Sewry, C, Muntoni, F
Published 2009Journal article -
5
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan by 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, A, Kinali, M, Torelli, S, Brown, S, Sewry, C, Bushby, K, Topaloglu, H, North, K, Abbs, S, Muntoni, F
Published 2007Journal article -
6
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect by Thompson, K, Mai, N, Oláhová, M, Scialó, F, Formosa, LE, Stroud, DA, Garrett, M, Lax, NZ, Robertson, FM, Jou, C, Nascimento, A, Ortez, C, Jimenez‐Mallebrera, C, Hardy, SA, He, L, Brown, GK, Marttinen, P, McFarland, R, Sanz, A, Battersby, BJ, Bonnen, PE, Ryan, MT, Chrzanowska‐Lightowlers, ZM, Lightowlers, RN
Published 2018Journal article