Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

por Lee, Wei Shern, Baldassari, Sara, Stephenson, Sarah E. M., Lockhart, Paul J., Baulac, Stéphanie, Leventer, Richard J.
Publicado 2022

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

por Gao, Yujing, Wilson, Gabrielle R., Salce, Nicholas, Romano, Alexandra, Mellick, George D., Stephenson, Sarah E. M., Lockhart, Paul J.
Publicado 2020

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

por Stephenson, Sarah E. M., Aumann, Timothy D., Taylor, Juliet M., Riseley, Jessica R., Li, Ruili, Mann, Jeffrey R., Tomas, Doris, Lockhart, Paul J.
Publicado 2018

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

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

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

por Lee, Wei Shern, Macdonald‐Laurs, Emma, Stephenson, Sarah E M, D'Arcy, Colleen, MacGregor, Duncan, Leventer, Richard J, Maixner, Wirginia, Harvey, A Simon, Lockhart, Paul J
Publicado 2022

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

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

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

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