17878207 |
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Talim, B,
Smith, J,
Abbs, S,
Brown, SC,
Clement, E,
Godfrey, C,
Kinali, M,
Bushby, K,
Brockington, M,
Torelli, S,
Muntoni, F,
Mercuri, E,
Quinlivan, R,
North, K,
Feng, L,
Sewry, CA,
Manzur, AY,
Mein, R,
Jimenez-Mallebrera, C,
Straub, V,
Topaloglu, H,
Robb, S
|
Brain |
2007 |
19299310 |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
Scuderi, C,
Mottarelli, E,
Morandi, L,
Laverda, A,
Saredi, S,
Moggio, M,
Biancheri, R,
Pichiecchio, A,
Berardinelli, A,
Ruggieri, A,
Pane, M,
Toscano, A,
Pegoraro, E,
Messina, S,
Boffi, P,
Uggetti, C,
Tessa, A,
Santorelli, FM,
Ricci, E,
Comi, GP,
Pini, A,
Mercuri, E,
Bertini, E,
Trevisan, CP,
Vasco, G,
D'Amico, A,
Mongini, T,
Moroni, I,
Bruno, C,
Tortorella, G,
Minetti, C,
Aiello, C,
Pezzani, R,
Mora, M,
Cassandrini, D
|
Neurology |
2009 |
12369018 |
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Merlini, L,
Brunner, HG,
van Bokhoven, H,
Chitayat, D,
van Beusekom, E,
Celli, J,
Lehesjoki, AE,
Dobyns, WB,
Steinbrecher, A,
Cormand, B,
Currier, S,
Walsh, CA,
Voit, T,
Cruces, J,
Kayserili, H,
van der Zwaag, B,
Beltrán-Valero de Bernabé, D
|
Am. J. Hum. Genet. |
2002 |