Donna M. Krasnewich

Familial dementia caused by polymerization of mutant neuroserpin

Richard L. Davis, Antony E. Shrimpton, P D Holohan et al. · Nature · 1999 · 347 citations · Full text

Alzheimer's Disease, Dementia, Frontotemporal Dementia +6

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering

Changsoo Kang, Sheikh Riazuddin, Jennifer Mundorff et al. · New England Journal of Medicine · 2010 · 264 citations · Full text

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

Gaucher Disease and Parkinsonism: A Phenotypic and Genotypic Characterization

Nahid Tayebi, Megan Callahan, Victor Madike et al. · Molecular Genetics and Metabolism · 2001 · 199 citations

Neurodegenerative Diseases, Mendelian Disorder, Gaucher Disease +6

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

Belinda Galeano, Riko Klootwijk, Irini Manoli et al. · Journal of Clinical Investigation · 2007 · 197 citations · Full text