Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

by Yujing Gao, Yujing Gao, Gabrielle R. Wilson, Gabrielle R. Wilson, Nicholas Salce, Alexandra Romano, George D. Mellick, Sarah E. M. Stephenson, Sarah E. M. Stephenson, Paul J. Lockhart, Paul J. Lockhart
Published 2020-06-01

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

by Sarah E. M. Stephenson, Timothy D. Aumann, Juliet M. Taylor, Jessica R. Riseley, Ruili Li, Jeffrey R. Mann, Doris Tomas, Paul J. Lockhart
Published 2018-05-01

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

by Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Published 2021-02-01

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

by Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart
Published 2020-03-01

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

by Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer
Published 2019-07-01