Sarah Stephenson

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 268 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +8

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Eppie M. Yiu, Geneieve Tai, Roger E. Peverill et al. · Journal of Neurology · 2015 · 110 citations

Open-label Trial, Pharmacology, Clinical Trials +5

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards et al. · Nature Genetics · 2017 · 95 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Second‐hit<i> DEPDC5</i> mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Wei Shern Lee, Sarah Stephenson, Katherine B. Howell et al. · Annals of Clinical and Translational Neurology · 2019 · 75 citations · Full text

Characterization of human PDGFR-β-positive pericytes from IPF and non-IPF lungs

Carole L. Wilson, Sarah Stephenson, Jean Paul Higuero et al. · American Journal of Physiology-Lung Cellular and Molecular Physiology · 2018 · 48 citations

Inflammatory Lung Disease, Lung Inflammation, Ipf Lung Pericytes +24