Resultados da busca - Sara Kivity

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  1. 1
    Benign occipital epilepsies of childhood: clinical features and genetics

    Benign occipital epilepsies of childhood: clinical features and genetics por Isabella Taylor, Samuel F. Berkovic, Sara Kivity, Ingrid E. Scheffer

    Publicado em 2008
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  2. 2
    Long‐term Cognitive Outcomes of a Cohort of Children with Cryptogenic Infantile Spasms Treated with High‐dose Adrenocorticotropic Hormone

    Long‐term Cognitive Outcomes of a Cohort of Children with Cryptogenic Infantile Spasms Treated with High‐dose Adrenocorticotropic Hormone por Sara Kivity, Pinchas Lerman, Raya Ariel, Y Danziger, Marc Mimouni, Shlomo Shinnar

    Publicado em 2004
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  3. 3
    Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes

    Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes por Hadassah Goldberg‐Stern, Ofer M. Gonen, Menachem Sadeh, Sara Kivity, Avinoam Shuper, Dov Inbar

    Publicado em 2009
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  4. 4
    Exploring the Self-Reported Physical and Psychological Effects in a Population Exposed to a Regional Conflict

    Exploring the Self-Reported Physical and Psychological Effects in a Population Exposed to a Regional Conflict por Naama Shamir-Stein, Ilana Feldblum, Eran Rotman, Shir Cohen, E. Brand, Sara Kivity, Mor Saban

    Publicado em 2024
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  5. 5
    Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

    Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures por Sarah E. Heron, Kimberly H. Cox, Bronwyn E. Grinton, Sameer M. Zuberi, Sara Kivity, Zaid Afawi, Rachel Straussberg, Samuel F. Berkovic, Ingrid E. Scheffer, John C. Mulley

    Publicado em 2007
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  6. 6
    Panayiotopoulos syndrome: a consensus view

    Panayiotopoulos syndrome: a consensus view por Colin D. Ferrie, Roberto Caraballo, Athanasios Covanis, Veysi Demirbilek, Ayşın Dervent, Sara Kivity, Michael Koutroumanidis, Žarko Martinović, Hirokazu Oguni, Alberto Verrotti, Federico Vigevano, Kazuyoshi Watanabe, Despina Yalcin, Harami Yoshinaga

    Publicado em 2006
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  7. 7
    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures

    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures por Ingrid E. Scheffer, Bronwyn E. Grinton, Sarah E. Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg‐Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G. Sadleir, Samuel F. Berkovic, Leanne M. Dibbens

    Publicado em 2012
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  8. 8
    A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

    A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 por Mark Corbett, Melanie Bahlo, Lachlan A. Jolly, Zaid Afawi, Alison Gardner, Karen Oliver, Stanley Tan, A. Kirtland Coffey, John C. Mulley, Leanne M. Dibbens, Simri Walid, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gécz

    Publicado em 2010
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  9. 9
    Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

    Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy por Richard D. Bagnall, Douglas E. Crompton, Slavé Petrovski, Lien Lam, Carina Cutmore, Sarah Garry, Lynette G. Sadleir, Leanne M. Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M. Regan, Johan Duflou, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher Semsarian

    Publicado em 2015
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  10. 10
    Early‐Onset Benign Occipital Seizure Susceptibility Syndrome

    Early‐Onset Benign Occipital Seizure Susceptibility Syndrome por C D Ferrie, A Beaumanoir, Renzo Guerrini, Sara Kivity, Federico Vigevano, Yasuko Takaishi, Kazuyoshi Watanabe, L Mira, Giorgio Capizzi, Paola Costa, Daniela Valseriati, Daniele Grioni, P Lerman, Stefano Ricci, Piernanda Vigliano, A. Goumas‐Kartalas, Kenji Hashimoto, R. O. Robinson, C. P. Panayiotopoulos

    Publicado em 1997
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  11. 11
    Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families

    Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families por Carla Marini, Ingrid E. Scheffer, Kathryn M. Crossland, Bronwyn E. Grinton, Fiona Phillips, Jacinta M. McMahon, Samantha J. Turner, Joanne Tracey Dean, Sara Kivity, Aziz Mazarib, Miriam Y. Neufeld, Amos D. Korczyn, Louise A. Harkin, Leanne M. Dibbens, Robyn H. Wallace, John C. Mulley, Samuel F. Berkovic

    Publicado em 2004
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  12. 12
    <i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    <i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis por Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Davide Mei, Kathy Cox, Leanne M. Dibbens, Jacinta M. McMahon, Xenia Iona, Rochio Sanchez Carpintero, Maurizio Elia, Maria Roberta Cilio, Nicola Specchio, Lucio Giordano, Pasquale Striano, Elena Di Gennaro, J. Helen Cross, Sara Kivity, Miriam Y. Neufeld, Zaid Afawi, Eva Andermann, Daniel Keene, Olivier Dulac, Federico Zara, Samuel F. Berkovic, Renzo Guerrini, John C. Mulley

    Publicado em 2009
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  13. 13
    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome por Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree Hodgson, Xenia Iona, Lynette G. Sadleir, James T. Pelekanos, Eric Herlenius, Hadassa Goldberg‐Stern, Haim Bassan, Eric Haan, Amos D. Korczyn, Alison Gardner, Mark Corbett, Jozef Gécz, Paul Q. Thomas, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

    Publicado em 2012
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  14. 14
    Epilepsy and mental retardation limited to females: an under-recognized disorder

    Epilepsy and mental retardation limited to females: an under-recognized disorder por Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens, Marta A. Bayly, Kathryn Friend, Bree Hodgson, Linda Burrows, Marie Shaw, Wei Chen, Reinhard Ullmann, Hans‐Hilger Ropers, Pierre Szepetowski, Eric Haan, Aziz Mazarib, Zaid Afawi, Miriam Y. Neufeld, P. Ian Andrews, Geoffrey Wallace, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Christopher P. Derry, Amos D. Korczyn, Jozef Gécz, John C. Mulley, Samuel F. Berkovic

    Publicado em 2008
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  15. 15
    Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

    Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 por Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V. Wuttke, Yvonne G. Weber, Holger Lerche, Zaid Afawi, Wim Vandenberghe, Amos D. Korczyn, Samuel F. Berkovic, Dana Ekstein, Sara Kivity, Philippe Ryvlin, Laurence Claes, Liesbet Deprez, Snezana Maljevic, A. Vargas, Tine Van Dyck, D. Goossens, Jurgen Del‐Favero, Koen Van Laere, Peter De Jonghe, Wim Van Paesschen

    Publicado em 2008
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  16. 16
    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy por Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth E. Palmer, Michael Field, Jackie Boyle, David Chitayat, William D. Gaillard, Eric H. Kossoff, Marjolaine Willems, David Geneviève, Frédéric Tran Mau‐Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel‐Paulet, Amélie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky‐Silver, Tally Lerman‐Sagie

    Publicado em 2016
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  17. 17
    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome por Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen, Pedro Gonzalez‐Alegre, Hilary Griesbach, Shu Wu, Marcus Nashelsky, Eszter K. Vladar, Dragana Antic, Polly J. Ferguson, Sebahattin Çırak, Thomas Voït, Matthew P. Scott, Jeffrey D. Axelrod, Christina A. Gurnett, Azhar S. Daoud, Sara Kivity, Miriam Y. Neufeld, Aziz Mazarib, Rachel Straussberg, Simri Walid, Amos D. Korczyn, Diane C. Slusarski, Samuel F. Berkovic, Hatem El‐Shanti

    Publicado em 2008
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  18. 18
    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 por Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoff Wallace, Thorsten Stanley, Ann Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard Webster, Amos D. Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman‐Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    Publicado em 2013
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  19. 19
    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes por Carolina Courage, Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betül Baykan, Christian Brandt, Carlo Di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, P. Riguzzi, Angelo Labate, Alessandro Filla, Anna Teresa Giallonardo, Géza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos D. Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna‐Elina Lehesjoki

    Publicado em 2021
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  20. 20
    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment por Leanne M. Dibbens, Patrick Tarpey, Kim Hynes, Marta A. Bayly, Ingrid E. Scheffer, Raffaella Smith, Jamee M. Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J. Turner, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, Andy Jenkinson, Rebecca Shepherd, James F. Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y. Neufeld, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Amos D. Korczyn, Christopher P. Derry, Grant R. Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung‐Goo Kim, Daniel H. Geschwind, Paul Q. Thomas, Eric Haan, Stephen G. Ryan, Shane McKee, Samuel F. Berkovic, P. Andrew Futreal, Michael R. Stratton, John C. Mulley, Jozef Gécz

    Publicado em 2008
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