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Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
Authors: Senderek, J.; Krieger, M.; Stendel, C.; Bergmann, C.; Moser, M.; Breitbach-Faller, N.; Rudnik-Schoneborn, S.; Blaschek, A.; Wolf, N. I.; Harting, I.; North, K.; Smith, J.; Muntoni, F.; Brockington, M.; Quijano-Roy, S.; Renault, F.; Herrmann, R.; Hendershot, L. M.; Schroder, J. M.; Lochmuller, H.; Topaloglu, H.; Voit, T.; Weis, J.; Ebinger, F.; Zerres, K.
Date of Publication (YYYY-MM-DD): 2005-12
Title of Journal: Nature Genetics
Volume: 37
Issue / Number: 12
Start Page: 1312
End Page: 1314
Document Type: Article
ID: 261730.0
Expression and role of novel B7 family members in human muscle: implications for the pathogenesis of inflammatory myopathies
Authors: Mitsdoerffer, M.; Schneider, D.; Krause, S.; Chen, L.; Lochmuller, H.; Hohlfeld, Reinhard; Melms, Arthur; Weller, M.; Wiendl, Heinz
Date of Publication (YYYY-MM-DD): 2004-09
Title of Journal: Journal of Neuroimmunology
Volume: 154
Issue / Number: 1-2 Sp. Iss. Sp. Iss. SI
Start Page: 161
End Page: 161
Document Type: Article
ID: 228785.0
Entries: 1-2  
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