B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations

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

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Elizabeth Stevens, Keren Carss, Sebahattin Çirak et al. · The American Journal of Human Genetics · 2013 · 195 citations · Full text

Life Sciences, Biochemistry, Genetics +9

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Emma Clement, Eugenio Mercuri, Caroline Godfrey et al. · Annals of Neurology · 2008 · 178 citations

Life Sciences, Neurology, Neuroscience +17

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Monica Ohlsson, Carola Hedberg, Björn Brådvik et al. · Brain · 2012 · 108 citations · Full text

Medicine, Genetics, Molecular Genetics +15