Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
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Published in Neurology (03.11.2020)
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Cytokine receptor signaling through the Jak–Stat–Socs pathway in disease
O'Sullivan, Lynda A., Liongue, Clifford, Lewis, Rowena S., Stephenson, Sarah E.M., Ward, Alister C.
Published in Molecular immunology (01.04.2007)
Published in Molecular immunology (01.04.2007)
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Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line
Stephenson, Sarah E M, Aumann, Timothy D, Taylor, Juliet M, Riseley, Jessica R, Li, Ruili, Mann, Jeffrey R, Tomas, Doris, Lockhart, Paul J
Published in Scientific reports (14.05.2018)
Published in Scientific reports (14.05.2018)
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The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
Macdonald-Laurs, Emma, Warren, Aaron E L, Francis, Peter, Mandelstam, Simone A, Lee, Wei Shern, Coleman, Matthew, Stephenson, Sarah E M, Barton, Sarah, D'Arcy, Colleen, Lockhart, Paul J, Leventer, Richard J, Harvey, A Simon
Published in Brain (London, England : 1878) (04.04.2024)
Published in Brain (London, England : 1878) (04.04.2024)
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The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease
Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Bozaoglu, Kiymet, Farrer, Matthew J., Lockhart, Paul J.
Published in Movement disorders (01.02.2018)
Published in Movement disorders (01.02.2018)
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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis
Lee, Wei Shern, Baldassari, Sara, Stephenson, Sarah E M, Lockhart, Paul J, Baulac, Stéphanie, Leventer, Richard J
Published in International journal of molecular sciences (25.01.2022)
Published in International journal of molecular sciences (25.01.2022)
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Goh, Elaine Suk-Ying, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, de Haan, Hugoline, Sadedin, Simon, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, Tan, Tiong Yang
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
Yiu, Eppie M., Tai, Geneieve, Peverill, Roger E., Lee, Katherine J., Croft, Kevin D., Mori, Trevor A., Scheiber-Mojdehkar, Barbara, Sturm, Brigitte, Praschberger, Monika, Vogel, Adam P., Rance, Gary, Stephenson, Sarah E. M., Sarsero, Joseph P., Stockley, Creina, Lee, Chung-Yung J., Churchyard, Andrew, Evans-Galea, Marguerite V., Ryan, Monique M., Lockhart, Paul J., Corben, Louise A., Delatycki, Martin B.
Published in Journal of neurology (01.05.2015)
Published in Journal of neurology (01.05.2015)
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Resection of tuber centers only for seizure control in tuberous sclerosis complex
Stephenson, Sarah E.M., Maixner, Wirginia J., Barton, Sarah M., D’Arcy, Colleen, Mandelstam, Simone A., MacGregor, Duncan, Lockhart, Paul J., Leventer, Richard J., Harvey, A. Simon
Published in Epilepsy research (01.03.2021)
Published in Epilepsy research (01.03.2021)
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The kids are OK: it is discrimination not same-sex parents that harms children
Knight, Ken W, Stephenson, Sarah Em, West, Sue, Delatycki, Martin B, Jones, Cheryl A, Little, Melissa H, Patton, George C, Sawyer, Susan M, Skinner, S Rachel, Telfer, Michelle M, Wake, Melissa, North, Kathryn N, Oberklaid, Frank
Published in Medical journal of Australia (06.11.2017)
Published in Medical journal of Australia (06.11.2017)
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Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
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.
Published in Annals of clinical and translational neurology (01.07.2019)
Published in Annals of clinical and translational neurology (01.07.2019)
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Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia
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.
Published in Annals of clinical and translational neurology (01.02.2021)
Published in Annals of clinical and translational neurology (01.02.2021)
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374. Developing Bone Marrow Transplant and Lentiviral Vectors to Treat Friedreich Ataxia
Ong, Sze Hwee, Zhang, Dong C., Sim, Chou H., Burton, Matthew, Phelan, Dean, Stephenson, Sarah E.M., Wilson, Gabrielle R., Newgreen, Donald F., Hannan, Anthony J., Lockhart, Paul J., Delatycki, Martin B., Evans-Galea, Marguerite V.
Published in Molecular therapy (01.05.2016)
Published in Molecular therapy (01.05.2016)
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Distribution of Parkinson's disease associated RAB39B in mouse brain tissue
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
Published in Molecular brain (30.03.2020)
Published in Molecular brain (30.03.2020)
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A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Marsh, Ashley P. L., Yap, Patrick, Tan, Tiong, Pope, Kate, White, Susan M., Chong, Belinda, Mcgillivray, George, Boys, Amber, Stephenson, Sarah E. M., Leventer, Richard J., Stark, Zornitza, Lockhart, Paul J.
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia
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
Published in Epilepsia open (01.03.2023)
Published in Epilepsia open (01.03.2023)
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395. Developing Bone Marrow Transplant and Lentiviral Vectors for Friedreich Ataxia
Evans-Galea, Marguerite V., HweeOng, Sze, Zhang, Dongcheng, Burton, Matthew, Sim, Chou H., Phelan, Dean, Stephenson, Sarah E.M., Wilson, Gabrielle R., Newgreen, Donald F., Lockhart, Paul J., Delatycki, Martin B.
Published in Molecular therapy (01.05.2015)
Published in Molecular therapy (01.05.2015)
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HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia
Delatycki, Martin B., Tai, Geneieve, Corben, Louise, Yiu, Eppie M., Evans-Galea, Marguerite V., Stephenson, Sarah E.M., Gurrin, Lyle, Allen, Katrina J., Lynch, David, Lockhart, Paul J.
Published in Movement disorders (01.06.2014)
Published in Movement disorders (01.06.2014)
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