R. Mein

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

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 433 citations · Full text

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Fatemeh Geranmayeh, Emma Clement, Lucy Feng et al. · Neuromuscular Disorders · 2010 · 202 citations

Genetic Disorder, Genetics, Genotype–phenotype Correlation +7

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Emma Clement, Eugenio Mercuri, Caroline Godfrey et al. · Annals of Neurology · 2008 · 177 citations

<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophy

Caroline Godfrey, Diana M. Escolar, Martin Brockington et al. · Annals of Neurology · 2006 · 158 citations

<i>EPG5</i> -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Susan Byrne, Jean-Marie U-King-Im, Ata Siddiqui et al. · Brain · 2016 · 138 citations · Full text