1 research outputs found
220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016
Highlights
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Review of clinical phenotypes associated with the dystroglycanopathies.
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Discussion of current animal models and their contribution to understanding the disease process.
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New insight into the glycosylation of alpha dystroglycan and the role of LARGE.
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Structural information on the LARGE glycan