Daniel Darvish

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Nature Genetics · 2004 · 1,118 citations

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Journal of Clinical Investigation · 2007 · 163 citations