Výsledky vyhledávání - Sarah Stephenson

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  1. 1
    The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease

    The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease Autor Yujing Gao, Gabrielle R. Wilson, Sarah Stephenson, Kiymet Bozaoglu, Matthew J. Farrer, Paul J. Lockhart

    Vydáno 2018
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  2. 2
    Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

    Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis Autor Wei Shern Lee, Sara Baldassari, Sarah Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

    Vydáno 2022
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  3. 3
    Characterization of human PDGFR-β-positive pericytes from IPF and non-IPF lungs

    Characterization of human PDGFR-β-positive pericytes from IPF and non-IPF lungs Autor Carole L. Wilson, Sarah Stephenson, Jean Paul Higuero, Carol Feghali‐Bostwick, Chi F. Hung, Lynn M. Schnapp

    Vydáno 2018
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  4. 4
    Gradient of brain mosaic <i>RHEB</i> variants causes a continuum of cortical dysplasia

    Gradient of brain mosaic <i>RHEB</i> variants causes a continuum of cortical dysplasia Autor Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

    Vydáno 2021
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  5. 5
    Second‐hit<i> DEPDC5</i> mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

    Second‐hit<i> DEPDC5</i> mutation is limited to dysmorphic neurons in cortical dysplasia type IIA Autor Wei Shern Lee, Sarah Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, A. Simon Harvey, Paul J. Lockhart, Richard J. Leventer

    Vydáno 2019
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  6. 6
    Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

    Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology Autor Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope, Kirk J. Hogan, Ronald G. Gregg, Catherine J. Bromhead, David S. Wargowski, Christopher Lawrence, Paul A. James, Andrew Churchyard, Yujing Gao, Dean Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley P.L. Marsh, Maria Lidia Mignogna, Susan J. Hayflick, Richard J. Leventer, Martin B. Delatycki, George D. Mellick, Vera M. Kalscheuer, Patrizia D’Adamo, Melanie Bahlo, David J. Amor, Paul J. Lockhart

    Vydáno 2014
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  7. 7
    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance Autor Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles A. Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Cathérine Garel, Greta Gillies, Ilan Gobius, Justine Guégan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukić, Simone Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail Robinson, Megan Spencer‐Smith, Myriam Srour, Sarah Stephenson, Rick M. Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy A. Rouleau, Tania Attié‐Bitach, Martin B. Delatycki, Jean‐Louis Mandel, David J. Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H. Sherr, Richard J. Leventer, Linda J. Richards, Paul J. Lockhart, Christel Depienne

    Vydáno 2017
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  8. 8
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Autor Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Vydáno 2022
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