Ohcanbohtosat - Simone Mandelstam

Aiddostahte ozu
  1. 1
    Complementary use of radiological skeletal survey and bone scintigraphy in detection of bony injuries in suspected child abuse * COMMENTARY

    Complementary use of radiological skeletal survey and bone scintigraphy in detection of bony injuries in suspected child abuse * COMMENTARY Dahkki Simone Mandelstam

    Almmustuhtton 2003
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  2. 2
    <i>GRIN2A</i>

    <i>GRIN2A</i> Dahkki Samantha J. Turner, Angela Mayes, Andrea Verhoeven, Simone Mandelstam, Angela Morgan, Ingrid E. Scheffer

    Almmustuhtton 2015
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  3. 3
    Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

    Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy Dahkki Daniel T. Pederick, Kay Richards, Sandra Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone Mandelstam, Russell C. Dale, Ingrid E. Scheffer, Jozef Gécz, Steven Petrou, James N. Hughes, Paul Q. Thomas

    Almmustuhtton 2018
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  4. 4
    The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia

    The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia Dahkki A. Simon Harvey, Simone Mandelstam, Wirginia Maixner, Richard J. Leventer, Mira Semmelroch, Duncan MacGregor, Renate M. Kalnins, Yuliya Perchyonok, Gregory J. Fitt, Sarah Barton, Michael Kean, Gavin Fabinyi, Graeme D. Jackson

    Almmustuhtton 2015
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  5. 5
    A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

    A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy Dahkki Katherine B. Howell, Stefanie Eggers, Kim Dalziel, Jessica R. Riseley, Simone Mandelstam, Candace T. Myers, Jacinta M. McMahon, Amy L. Schneider, Gemma L. Carvill, Heather C. Mefford, Ingrid E. Scheffer, A. Simon Harvey

    Almmustuhtton 2018
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  6. 6
    Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

    Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke Dahkki Tanya L. Medley, Christina Miteff, Ian Andrews, Tyson L. Ware, Michael Cheung, Paul Monagle, Simone Mandelstam, Alison Wray, Clair Pridmore, Christopher Troedson, Russell C. Dale, Michael Fahey, Adriane Sinclair, Peter Walsh, Belinda Stojanovski, Mark T. Mackay

    Almmustuhtton 2018
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  7. 7
    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients Dahkki Richard J. Leventer, Anna Jansen, Daniela T. Pilz, Neil Stoodley, Carla Marini, François Dubeau, J. Y. Malone, Lex A. Mitchell, Simone Mandelstam, Ingrid E. Scheffer, Samuel F. Berkovic, Frédérick Andermann, Eva Andermann, Renzo Guerrini, William B. Dobyns

    Almmustuhtton 2010
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  8. 8
    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 Dahkki 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

    Almmustuhtton 2019
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  9. 9
    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i>

    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i> Dahkki Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy L. Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello‐Espinosa, Mark T. Mackay, Geoff Wallace, Michaela Waak, Jing Zhang, Cheng Yang, Stephen Malone, Yuehua Zhang, Heather C. Mefford, Ingrid E. Scheffer

    Almmustuhtton 2017
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  10. 10
    <i>SCN2A</i> encephalopathy

    <i>SCN2A</i> encephalopathy Dahkki Katherine B. Howell, Jacinta M. McMahon, Gemma L. Carvill, Dimira Tambunan, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard F. Webster, Damian Clark, Jeremy L. Freeman, Sophie Calvert, Heather E. Olson, Simone Mandelstam, Annapurna Poduri, Heather C. Mefford, A. Simon Harvey, Ingrid E. Scheffer

    Almmustuhtton 2015
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  11. 11
    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy

    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy Dahkki Gemma L. Carvill, Douglas E. Crompton, Brigid M. Regan, Jacinta M. McMahon, Julia Saykally, Matthew Zemel, Amy L. Schneider, Leanne M. Dibbens, Katherine B. Howell, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Saul A. Mullen, Samuel F. Berkovic, Joseph Sullivan, Ingrid E. Scheffer, Heather C. Mefford

    Almmustuhtton 2015
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  12. 12
    Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i>

    Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i> Dahkki Thomas Scerri, Jessica R. Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone Mandelstam, Leanne M. Dibbens, C.W. Chow, Wirginia Maixner, A. Simon Harvey, Graeme D. Jackson, David J. Amor, Martin B. Delatycki, Peter B. Crino, Samuel F. Berkovic, Ingrid E. Scheffer, Melanie Bahlo, Paul J. Lockhart, Richard J. Leventer

    Almmustuhtton 2015
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  13. 13
    <i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

    <i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk Dahkki Karen Oliver, Marina Trivisano, Simone Mandelstam, Angela De Dominicis, David Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Métreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaëtan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer

    Almmustuhtton 2023
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  14. 14
    Extending the <i>KCNQ2</i> encephalopathy spectrum

    Extending the <i>KCNQ2</i> encephalopathy spectrum Dahkki Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S. Møller, Sabine Grønborg, An‐Sofie Schoonjans, Berten Ceulemans, Sinéad B. Heavin, Christin Eltze, Rita Horváth, Gianluca Casara, Tiziana Pisano, Lucio Giordano, Kevin Rostásy, Edda Haberlandt, Beate Albrecht, Andrea Bevot, Ira Benkel, Steffan Syrbe, Beth Rosen Sheidley, Renzo Guerrini, Annapurna Poduri, Johannes R. Lemke, Simone Mandelstam, Ingrid E. Scheffer, Marco Angriman, Pasquale Striano, Carla Marini, Arvid Suls, Peter De Jonghe

    Almmustuhtton 2013
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  15. 15
    The severe epilepsy syndromes of infancy: A population‐based study

    The severe epilepsy syndromes of infancy: A population‐based study Dahkki Katherine B. Howell, Jeremy L. Freeman, Mark T. Mackay, Michael Fahey, John S. Archer, Samuel F. Berkovic, E Chan, Gabriel Dabscheck, Stefanie Eggers, Michael J. Hayman, James Holberton, Rod W. Hunt, Susan E Jacobs, Andrew J. Kornberg, Richard J. Leventer, Simone Mandelstam, Jacinta M. McMahon, Heather C. Mefford, Julie Panetta, Jessica R. Riseley, Victoria Rodriguez‐Casero, Monique M. Ryan, Amy L. Schneider, Lindsay J. Smith, Zornitza Stark, Flora Y. Wong, Eppie M. Yiu, Ingrid E. Scheffer, A. Simon Harvey

    Almmustuhtton 2021
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  16. 16
    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism Dahkki Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W.E. Jones, Ilaria Dalla Rosa, Nicole J. Lake, Alison G. Compton, Hayley S. Mountford, Elena J. Tucker, Alice Mitchell, Deborah Jackson, Abdul Karim Sesay, Miriam Di Re, Lambert P. van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne‐Marie W. Turner, P. Ian Andrews, Jan Smeitink, Johannes N. Spelbrink, Simon Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian Holt, David R. Thorburn, Antonella Spinazzola

    Almmustuhtton 2017
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  17. 17
    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures

    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures Dahkki Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, John S. Archer, Sinéad B. Heavin, Simone Mandelstam, Dana Craiu, Samuel F. Berkovic, Deepak Gill, Heather C. Mefford, Ingrid E. Scheffer, Aarno Paalotie, Anna‐Elina Lehesjoki, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric LeGuern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Manuela Pendziwiat, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Arvid Suls, Tania Djémié, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Almmustuhtton 2015
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  18. 18
    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 Dahkki 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

    Almmustuhtton 2017
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  19. 19
    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Dahkki Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

    Almmustuhtton 2020
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  20. 20
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome Dahkki Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim

    Almmustuhtton 2017
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