Joan Keutzer

Glucocerebrosidase activity in Parkinson’s disease with and without<i>GBA</i>mutations

Roy N. Alcalay, Oren Levy, Cheryl Waters et al. · Brain · 2015 · 389 citations · Full text

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

Pramod K. Mistry, Jun Liu, Mei Yang et al. · Proceedings of the National Academy of Sciences · 2010 · 247 citations

Sclerostin, Immunology, Severe Osteoporosis +20

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

Yin‐Hsiu Chien, Shu‐Chuan Chiang, Xiaokui Kate Zhang et al. · PEDIATRICS · 2008 · 240 citations

Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease

Yumiko Taguchi, Jun Liu, Jiapeng Ruan et al. · Journal of Neuroscience · 2017 · 235 citations · Full text

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

Yin‐Hsiu Chien, Ni‐Chung Lee, Beth L. Thurberg et al. · PEDIATRICS · 2009 · 225 citations