Marinesco-Sjogren Syndrome and SIL1 Mutations

Open Access

|Feb 2014

Krieger M Roos A Stendel C Claeys KG Sonmez FM Baudis M SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome Brain 2013 Dec 136 Pt 12 3634 44 10.1093/brain/awt283 24176978
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Senderek J Krieger M Stendel C Bergmann C Moser M Breitbach-Faller N Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Nat Genet 2005 Dec 37 12 1312 4 10.1038/ng1678 16282977
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Millichap JG Neurological Syndromes 2013 New York Springer 279 10.1007/978-1-4614-7786-0
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Language: English

Page range: 15 - 15

Published on: Feb 1, 2014

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

© 2014 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.