Ngā hua rapu - Amy L. Schneider

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  1. 1
    Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials

    Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials mā Wenhui Li, Amy L. Schneider, Ingrid E. Scheffer

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Sleep problems in Dravet syndrome: a modifiable comorbidity

    Sleep problems in Dravet syndrome: a modifiable comorbidity mā Shane H Licheni, Jacinta M. McMahon, Amy L. Schneider, Margot J. Davey, Ingrid E. Scheffer

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

    Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures mā Rima Nabbout, Stéphane Auvin, Catherine Chiron, Elizabeth A. Thiele, J. Helen Cross, Ingrid E. Scheffer, Amy L. Schneider, Renzo Guerrini, Nicola Williamson

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    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 mā 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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Parental Mosaicism in “De Novo” Epileptic Encephalopathies

    Parental Mosaicism in “De Novo” Epileptic Encephalopathies mā Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Carta
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  6. 6
    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> mā 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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy

    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies

    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies mā D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies

    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies mā Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Variants in <i>ATP6V0C</i> are associated with Dravet‐like developmental and epileptic encephalopathy

    Variants in <i>ATP6V0C</i> are associated with Dravet‐like developmental and epileptic encephalopathy mā Marlene Rong, Paula Marques, Quratulain Zulfiqar Ali, Ricardo Morcos, Ilakkiah Chandran, Farah Qaiser, Rikke S. Møller, Allan Bayat, Guido Rubboli, Elena Gardella, Miriam S. Reuter, Tristan T. Sands, Ingrid E. Scheffer, Amy L. Schneider, Annapurna Poduri, Elaine Wirrell, Rima Nabbout, Joseph Sullivan, Kette D. Valente, Stéphane Auvin, Kelly G. Knupp, Andreas Brunklaus, Ángel Aledo‐Serrano, Danielle M. Andrade

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures mā Gemma L. Carvill, Jacinta M. McMahon, Amy L. Schneider, Matthew Zemel, Candace T. Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L. Smith, Richard J. Leventer, Rikke S. Møller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano, Sarah Weckhuysen, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

    Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase mā Lily Paemka, Vinit B. Mahajan, Salleh N. Ehaideb, Jessica M. Skeie, Men Chee Tan, Shu Wu, Allison Cox, Levi P. Sowers, Jozef Gécz, Lachlan A. Jolly, Polly J. Ferguson, Benjamin W. Darbro, Amy L. Schneider, Ingrid E. Scheffer, Gemma L. Carvill, Heather C. Mefford, Hatem El‐Shanti, Stephen A. Wood, J. Robert Manak, Alexander G. Bassuk

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

    Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain mā Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A. Damiano, Lara McQuillan, A. Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy L. Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J. Lockhart, Alexander Dobrovic, Ingrid E. Scheffer, Melanie Bahlo, Richard J. Leventer, Ryan Lister, Samuel F. Berkovic, Michael S. Hildebrand

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    The severe epilepsy syndromes of infancy: A population‐based study

    The severe epilepsy syndromes of infancy: A population‐based study mā 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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature mā Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy L. Schneider, Cyril Mignot, Gaëtan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard, Hervé Isnard, Alice Poisson, S. Dupont, Patrick Berquin, Pierre Meyer, David Geneviève, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sékhara, Anne-Sophie Lèbre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Revisão
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  16. 16
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures mā Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome mā Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    <i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy

    <i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy mā Elizabeth Galizia, Candace T. Myers, Costin Leu, Carolien G. F. de Kovel, Tatiana Afrikanova, María Lorena Cordero-Maldonado, Teresa G. Martins, Maxime Jacmin, Suzanne Drury, Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S. Møller, Hölger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nürnberg, Holger Lerche, Aarno Palotie, Antonietta Coppola, Salvatore Striano, Luigi Del Gaudio, C. R. Boustred, Amy L. Schneider, Nicholas Lench, Bosanka Jocić-Jakubi, Athanasios Covanis, Giuseppe Capovilla, Pierangelo Veggiotti, Marta Piccioli, Pasquale Parisi, Laura Cantonetti, Lynette G. Sadleir, Saul A. Mullen, Samuel F. Berkovic, Ulrich Stephani, Ingo Helbig, Alexander D. Crawford, Camila V. Esguerra, Dorothee Kasteleijn‐Nolst Trenité, Bobby P.C. Koeleman, Heather C. Mefford, Ingrid E. Scheffer, Sanjay M. Sisodiya

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies mā Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James M.J. Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam H. Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, R Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Çağlayan, Katalin Štěrbová, Dana Craiu, Dorota Hoffman, Anna‐Elina Lehesjoki, Kaja Kristine Selmer, Christel Depienne, Johannes R. Lemke, Carla Marini, Renzo Guerrini, Bernd A. Neubauer, Tiina Talvik, Eric Leguern, Peter De Jonghe, Sarah Weckhuysen

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement mā Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy L. Schneider, Emily Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman‐Sagie, Kristen Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Geneviève, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao‐Tuan Chao, Geoffrey Neale, Gemma L. Carvill, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadiković, Heather C. Mefford

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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