Daniel Beltrán Valero de Bernabé

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

Somatic Variant, Mendelian Disorder, Genetic Disorder +6

A homozygous nonsense mutation in the <i>Fukutin</i> gene causes a Walker-Warburg syndrome phenotype

Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom et al. · Journal of Medical Genetics · 2003 · 155 citations · Full text

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

Tobias Willer, Kei‐ichiro Inamori, David Venzke et al. · eLife · 2014 · 128 citations · Full text

Glycobiology, Molecular Biology, Polysaccharide +16

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice

Renzhi Han, Ellie Frett, Jennifer Lévy et al. · Journal of Clinical Investigation · 2010 · 97 citations · Full text

Immunology, Immune System, Immunogenetics +18

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

Andrea Zaťková, Daniel Beltrán Valero de Bernabé, H Poláková et al. · The American Journal of Human Genetics · 2000 · 93 citations · Full text

Biology, Allelic Variant, Mendelian Disorder +7