نتائج البحث - Eva Andermann

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  1. 1
    The histopathology of polymicrogyria: a series of 71 brain autopsy studies

    The histopathology of polymicrogyria: a series of 71 brain autopsy studies حسب Anna Jansen, Yves Robitaille, Mrinalini Honavar, Nandini Mullatti, Richard J. Leventer, Eva Andermann, Frédérick Andermann, Waney Squier

    منشور في 2015
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  2. 2
    Periventricular nodular heterotopia with overlying polymicrogyria

    Periventricular nodular heterotopia with overlying polymicrogyria حسب Gretchen Wieck, Richard J. Leventer, Waney M. Squier, Anna Jansen, Eva Andermann, François Dubeau, Anna Ramazzotti, Renzo Guerrini, William B. Dobyns

    منشور في 2005
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  3. 3
    Brivaracetam in Unverricht‐Lundborg disease (<scp>EPM</scp>1): Results from two randomized, double‐blind, placebo‐controlled studies

    Brivaracetam in Unverricht‐Lundborg disease (<scp>EPM</scp>1): Results from two randomized, double‐blind, placebo‐controlled studies حسب Reetta Kälviäinen, Pierre Genton, Eva Andermann, Frédérick Andermann, Adriana Magaudda, Steven J. Frucht, Anne‐Françoise Schlit, Danielle Gérard, Christine de la Loge, Philipp von Rosenstiel

    منشور في 2015
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  4. 4
    <i>SCN1A</i> testing for epilepsy: Application in clinical practice

    <i>SCN1A</i> testing for epilepsy: Application in clinical practice حسب Shinichi Hirose, Ingrid E. Scheffer, Carla Marini, Peter De Jonghe, Eva Andermann, Alica M. Goldman, Marcelo Kauffman, Nigel CK Tan, Daniel H. Lowenstein, Sanjay M. Sisodiya, Ruth Ottman, Samuel F. Berkovic

    منشور في 2013
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  5. 5
    Comparative analysis of the safety and tolerability of eslicarbazepine acetate in older (≥60 years) and younger (18–59 years) adults

    Comparative analysis of the safety and tolerability of eslicarbazepine acetate in older (≥60 years) and younger (18–59 years) adults حسب Eva Andermann, William E. Rosenfeld, Patricia Penovich, Joanne Rogin, Fernando Cendes, Mar Carreño, R. Eugene Ramsay, Elinor Ben‐Menachem, Helena Gama, Francisco Rocha, Patrício Soares‐da‐Silva, Robert Tosiello, David Blum, Todd Grinnell

    منشور في 2020
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  6. 6
    Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12

    Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12 حسب Lan Xiong, Malgorzata Labuda, Dongsheng Li, Thomas J. Hudson, Richard Desbiens, G. Patry, S Verret, Pierre Langevin, Suha Mercho, Marie‐Hélène Seni, Ingrid E. Scheffer, François Dubeau, Samuel F. Berkovic, Frédérick Andermann, Eva Andermann, Massimo Pandolfo

    منشور في 1999
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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 حسب 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

    منشور في 2010
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  8. 8
    Familial focal epilepsy with focal cortical dysplasia due to <scp><i>DEPDC</i></scp><i>5</i> mutations

    Familial focal epilepsy with focal cortical dysplasia due to <scp><i>DEPDC</i></scp><i>5</i> mutations حسب Stéphanie Baulac, Saeko Ishida, Elise Marsan, Catherine Miquel, Arnaud Biraben, Dang Khoa Nguyen, Doug Nordli, Patrick Cossette, Sylvie Nguyen, Virginie Lambrecq, Mihaela Bustuchina ̆ Vlaicu, Maïlys Daniau, Franck Bielle, Eva Andermann, Frédérick Andermann, Eric Leguern, Francine Chassoux, Fabienne Picard

    منشور في 2015
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  9. 9
    Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

    Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 حسب Samuel F. Berkovic, José M. Serratosa, Hilary A. Phillips, Lan Xiong, Eva Andermann, Fernando Díaz‐Otero, Pilar Gómez‐Garre, Mercedes Martín, Yolanda Fernández‐Bullido, Frédérick Andermann, Íscia Lopes‐Cendes, François Dubeau, Richard Desbiens, Ingrid E. Scheffer, Robyn H. Wallace, John C. Mulley, Massimo Pandolfo

    منشور في 2004
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  10. 10
    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians

    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians حسب Myriam Srour, Fadi F. Hamdan, Jeremy Schwartzentruber, Lysanne Patry, Luis H. Ospina, Michael Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

    منشور في 2012
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  11. 11
    Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

    Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 حسب Todor Arsov, Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul A. Mullen, Frédérick Andermann, Sara Mole, Melanie Bahlo, Samuel F. Berkovic

    منشور في 2011
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  12. 12
    Rare copy number variants are an important cause of epileptic encephalopathies

    Rare copy number variants are an important cause of epileptic encephalopathies حسب Heather C. Mefford, Simone C. Yendle, Cynthia L. Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg‐Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben‐Zeev, Tally Lerman‐Sagie, Mark T. Mackay, Jeremy L. Freeman, Eva Andermann, James T. Pelakanos, Ian Andrews, Geoffrey Wallace, Evan E. Eichler, Samuel F. Berkovic, Ingrid E. Scheffer

    منشور في 2011
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  13. 13
    The spectrum of SCN1A-related infantile epileptic encephalopathies

    The spectrum of SCN1A-related infantile epileptic encephalopathies حسب Louise A. Harkin, Jacinta M. McMahon, Xenia Iona, Leanne M. Dibbens, James T. Pelekanos, Sameer M. Zuberi, Lynette G. Sadleir, Eva Andermann, Deepak Gill, K Farrell, Mary Connolly, Thorsten Stanley, Michael Harbord, Frédérick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G. Jones, William Seltzer, Alison Gardner, Grant Sutherland, Samuel F. Berkovic, John C. Mulley, Ingrid E. Scheffer

    منشور في 2007
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  14. 14
    Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

    Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain حسب M. Elizabeth Ross, Kristina M. Allen, Anand Srivastava, T. Featherstone, Joseph G. Gleeson, Betsy Hirsch, Brian Harding, Eva Andermann, Rabi Abdullah, Michael J. van den Berg, Désirée Czapansky-Bielman, D. Flanders, Renzo Guerrini, Jacques Motté, Alberto Puche Mira, Ingrid E. Scheffer, Samuel F. Berkovic, Francesco Scaravilli, Richard A. King, David H. Ledbetter, David Schlessinger, William B. Dobyns, Christopher A. Walsh

    منشور في 1997
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  15. 15
    <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 حسب 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

    منشور في 2009
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  16. 16
    Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

    Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis حسب Samuel F. Berkovic, Leanne M. Dibbens, Alicia Oshlack, Jeremy D. Silver, Marina Katerelos, Danya F. Vears, Renate Lüllmann‐Rauch, Judith Blanz, Ke Wei Zhang, Jim Stankovich, Renate M. Kalnins, John P. Dowling, Eva Andermann, Frédérick Andermann, Enrico Faldini, Rudi D’Hooge, Lata Vadlamudi, Richard Macdonell, Bree Hodgson, Marta A. Bayly, Judy Savige, John C. Mulley, Gordon K. Smyth, David A. Power, Paul Säftig, Melanie Bahlo

    منشور في 2008
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  17. 17
    Research conference summary from the 2014 International Task Force on <i>ATP1A3</i> -Related Disorders

    Research conference summary from the 2014 International Task Force on <i>ATP1A3</i> -Related Disorders حسب Hendrik Rosewich, Matthew Sweney, Suzanne D. DeBrosse, Kevin C. Ess, Laurie J. Ozelius, Eva Andermann, Frédérick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L. George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, D. Poncelin, Sandra P. Reyna, Masayuki Sasaki, Márcio Sotero de Menezes, Kathleen J. Sweadner, Louis Viollet, Mary L. Zupanc, Kenneth Silver, Kathryn J. Swoboda

    منشور في 2017
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  18. 18
    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development حسب Richard S. Smith, Connor Kenny, Vijay Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, Robert Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Anna‐Kaisa Anttonen, Jaakko Ignatius, Līvija Medne, Carsten G. Bönnemann, Jonathan L. Hecht, Oili Salonen, A. James Barkovich, Annapurna Poduri, Martina Wilke, Marie‐Claire Y. de Wit, Grazia M.S. Mancini, László Sztriha, Kiho Im, Dina Amrom, Eva Andermann, Ritva Paetau, Anna‐Elina Lehesjoki, Christopher A. Walsh, Maria K. Lehtinen

    منشور في 2018
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  19. 19
    Somatic Mutations in Cerebral Cortical Malformations

    Somatic Mutations in Cerebral Cortical Malformations حسب Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topçu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Şahin, Bernard S. Chang, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh

    منشور في 2014
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  20. 20
    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 حسب 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

    منشور في 2021
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