Sarah Stephenson

Genetic Analysis ofRAB39Bin an Early-Onset Parkinson's Disease Cohort

Yujing Gao, Gabrielle R Wilson, Nicholas Salce, Alexandra Romano, George D Mellick, Sarah EM Stephenson, Paul J Lockhart

Journal article  |  2020  |  Frontiers in Neurology

Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked ea..

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

Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A McLean, Paul Q Thomas, David Finkelstein, Paul Lockhart

Journal article  |  2020  |  Molecular Brain

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

Wei Shern Lee, Sarah EM 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

Journal article  |  2019  |  Annals of Clinical and Translational Neurology

Focal cortical dysplasia (FCD) causes drug-resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. Ho..

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Sarah EM Stephenson, Ruth Djaldetti, Haloom Rafehi, Gabrielle R Wilson, Greta Gillies, Melanie Bahlo, Paul J Lockhart

Journal article  |  2019  |  Parkinsonism & Related Disorders

BACKGROUND: Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date..

Pathogenic Variants in GPC4 Cause Keipert Syndrome

David J Amor, Sarah EM Stephenson, Mirna Mustapha, Martin A Mensah, Charlotte W Ockeloen, Wei Shern Lee, Rick M Tankard, Dean G Phelan, Marwan Shinawi, Arjan PM de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L Toler, V Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumic, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

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

Sarah EM Stephenson, Timothy D Aumann, Juliet M Taylor, Jessica R Riseley, Ruili Li, Jeffrey R Mann, Doris Tomas, Paul J Lockhart

Journal article  |  2018  |  Scientific Reports

The Emerging Role of Rab GTPases in the Pathogenesis of Parkinson's Disease

Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Kiymet Bozaoglu, Matthew J Farrer, Paul J Lockhart

Journal article  |  2018  |  Movement Disorders

DEVELOPING CELL AND GENE THERAPY TO TREAT FRIEDREICH ATAXIA

Sze Hwee Ong, Dong C Zhang, Chou H Sim, M Burton, Dean Phelan, Sarah EM Stephenson, Gabrielle R Wilson, Donald F Newgreen, Anthony J Hannan, Paul J Lockhart, Martin B Delatycki, Marguerite V Evans-Galea

Conference Proceedings  |  2018  |  JOURNAL OF GENE MEDICINE

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

Chloe Stutterd, Peter Diakumis, Melanie Bahlo, Miriam Fanjul Fernandez, Richard J Leventer, Martin Delatycki, David Amor, Chung W Chow, Sarah Stephenson, Miriam H Meisler, Catriona Mclean, Paul J Lockhart

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

The kids are OK: it is discrimination, not same-sex parents, that harms children

Ken W Knight, Sarah EM Stephenson, Sue West, Martin B Delatycki, Cheryl A Jones, Melissa H Little, George C Patton, Susan M Sawyer, S Rachel Skinner, Michelle M Telfer, Melissa Wake, Kathryn N North, Frank Oberklaid

Journal article  |  2017  |  The Medical journal of Australia

The kids are OK: It is discrimination, not same-sex parents, that harms children

KW Knight, SEM Stephenson, S West, MB Delatycki, CA Jones, MH Little, GC Patton, SM Sawyer, SR Skinner, MM Telfer, M Wake, KN North, F Oberklaid

Journal article  |  2017  |  Medical Journal of Australia

The kids are OK: it is discrimination not same-sex parents that harms children

KW Knight, SE Stephenson, S West, MB Delatycki, CA Jones, MH Little, GC Patton, SM Sawyer, SR Skinner, MM Telfer, M Wake, KN North, F Oberklaid

Journal article  |  2017  |  The Medical journal of Australia

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

Ashley PL Marsh, Delphine Heron, Timothy J Edwards, Angelique Quartier, Charles Galea, Caroline Nava, Agnes Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, et al.

Journal article  |  2017  |  Nature Genetics

A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

Ashley PL Marsh, Patrick Yap, Tiong Tan, Kate Pope, Susan M White, Belinda Chong, George Mcgillivray, Amber Boys, Sarah EM Stephenson, Richard J Leventer, Zornitza Stark, Paul J Lockhart

Journal article  |  2017  |  American Journal of Medical Genetics Part A

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, Katherine J Lee, Kevin D Croft, Trevor A Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P Vogel, Gary Rance, Sarah EM Stephenson, Joseph P Sarsero, Creina Stockley, Chung-Yung J Lee, Andrew Churchyard, Marguerite V Evans-Galea, Monique M Ryan, Paul J Lockhart, Louise A Corben, et al.

Journal article  |  2015  |  JOURNAL OF NEUROLOGY