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Published in Neurology (03.11.2020)
Published in Neurology (03.11.2020)
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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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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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Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update
Stephenson, Sarah EM, Djaldetti, Ruth, Rafehi, Haloom, Wilson, Gabrielle R., Gillies, Greta, Bahlo, Melanie, Lockhart, Paul J.
Published in Parkinsonism & related disorders (01.07.2019)
Published in Parkinsonism & related disorders (01.07.2019)
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Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations
Spencer‐Smith, Megan, Knight, Jacquelyn L, Lacaze, Emmanuelle, Depienne, Christel, Lockhart, Paul J, Richards, Linda J, Heron, Delphine, Leventer, Richard J, Robinson, Gail A, Ceslis, Amelia, Gibson, Emily, Giraudat, Kim, McIlroy, Alissandra, Paul, Lynn K, Siffredi, Vanessa, Bahlo, Melanie, Barker, Megan, Blondiaux, Eleonore, Edwards, Timothy J, Garel, Catherine, Heide, Solveig, Keren, Boris, Mandelstam, Simone A, Marsh, Ashley PL, McGillivray, George, Mignot, Cyril, Moutard, Marie‐Laure, Nava, Caroline, Pope, Kate, Rastetter, Agnès, Stephenson, Sarah EM, Valence, Stéphanie, de Villemeur, Thierry Billette, Wood, Amanda, Anderson, Vicki, Sherr, Elliott H
Published in Developmental medicine and child neurology (01.06.2020)
Published in Developmental medicine and child neurology (01.06.2020)
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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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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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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with [alpha]-Synuclein Pathology
Wilson, Gabrielle R, Sim, Joe CH, McLean, Catriona, Giannandrea, Maila, Galea, Charles A, Riseley, Jessica R, Stephenson, Sarah EM, Fitzpatrick, Elizabeth, Haas, Stefan A, Pope, Kate, Hogan, Kirk J, Gregg, Ronald G, Bromhead, Catherine J, Wargowski, David S, Lawrence, Christopher H, James, Paul A, Churchyard, Andrew, Gao, Yujing, Phelan, Dean G, Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley PL, Mignogna, Maria L, Hayflick, Susan J, Leventer, Richard J, Delatycki, Martin B, Mellick, George D, Kalscheuer, Vera M, D'Adamo, Patrizia, Bahlo, Melanie, Amor, David J, Lockhart, Paul J
Published in American journal of human genetics (04.12.2014)
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Published in American journal of human genetics (04.12.2014)
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ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible
DELATYCKI, Martin B, WOLTHUIZEN, Michelle, WILSON, Gabrielle R, STEPHENSON, Sarah Em, MACCIOCCA, Ivan, HICKERTON, Chriselle, LOCKHART, Paul J, METCALFE, Sylvia A, COLLINS, Veronica, VARLEY, Elizabeth, CRAVEN, Joanna, ALLEN, Katrina J, GURRIN, Lyle C, AITKEN, Maryanne, KAYE TREMBATH, M, BOND, Lyndal
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
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