Concepedia

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

Sandra Donkervoort, James J. Dowling, Jocelyn Laporte, Daniel MacArthur, C. Bönnemann, Alan H. Beggs, Gisèle Bonne, C. Bönnemann, Sandra Donkervoort, James J. Dowling,

Neuromuscular Disorders · 2019 · 14 citations · 16 references

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References

16

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano‐Roy et al. · Neuromuscular Disorders · 2014 · 333 citations · Full text

Approach to the diagnosis of congenital myopathies

Kathryn N. North, Ching H. Wang, Nigel F. Clarke et al. · Neuromuscular Disorders · 2013 · 313 citations · Full text

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Tobias Willer, Hane Lee, Mark Lommel et al. · Nature Genetics · 2012 · 237 citations · Full text

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 236 citations · Full text

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling et al. · Journal of Clinical Investigation · 2014 · 200 citations · Full text

, , +15