Search results - ORA - Oxford University Research Archive

1 - 7 of 7

1

Journal article

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

Jimenez-Mallebrera, C, Torelli, S, Feng, L, et al.
2009-10-01

2

Journal article

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

Matthews, E, Neuwirth, C, Jaffer, F, et al.
2018-01-03

3

Journal article

gene mutations in steroid-responsive limb girdle muscular dystrophy

Godfrey, C, Escolar, D, Brockington, M, et al.
2006-11-01

4

Journal article

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

Clement, E, Feng, L, Mein, R, et al.
2012-06-01

5

Journal article

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Godfrey, C, Clement, E, Mein, R, et al.
2007-10-01

6

Journal article

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

Clement, E, Godfrey, C, Tan, J, et al.
2008-01-01

7

Journal article

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Clement, E, Mercuri, E, Godfrey, C, et al.
2008-11-01

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