Browse by UCL people
Group by: Type | Date
Number of items: 3.
Article
Cirak, S;
Foley, AR;
Herrmann, R;
Willer, T;
Yau, S;
Stevens, E;
Torelli, S;
... Muntoni, F; + view all
(2013)
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain
, 136
(1)
269 -281.
10.1093/brain/aws312.
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Stevens, E;
Torelli, S;
Feng, L;
Phadke, R;
Walter, MC;
Schneiderat, P;
Eddaoudi, A;
... Muntoni, F; + view all
(2013)
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
PLoS One
, 8
(7)
, Article e68958. 10.1371/journal.pone.0068958.
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Thesis
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Stevens, ESL;
(2014)
An Investigation of Alpha-Dystroglycan Glycosylation in the Dystroglycanopathies: Implications for Diagnosis, Therapy and the Study of Novel Causative Genes.
Doctoral thesis , UCL (University College London).
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