Showing 1 - 7 results of 7 for search 'Mein, R', query time: 0.02s
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Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008 by Clement, E, Feng, L, Mein, R, Sewry, C, Robb, SA, Manzur, A, Mercuri, E, Godfrey, C, Cullup, T, Abbs, S, Muntoni, F
Published 2012Journal article -
2
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 -
3
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 -
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
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype by Matthews, E, Neuwirth, C, Jaffer, F, Scalco, RS, Fialho, D, Parton, M, Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, JL, Jungbluth, H, Hanna, MG
Published 2018Journal article -
6
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 -
7
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation by Clement, E, Mercuri, E, Godfrey, C, Smith, J, Robb, S, Kinali, M, Straub, V, Bushby, K, Manzur, A, Talim, B, Cowan, F, Quinlivan, R, Klein, A, Longman, C, McWilliam, R, Topaloglu, H, Mein, R, Abbs, S, North, K, Barkovich, A, Rutherford, M, Muntoni, F
Published 2008Journal article