Search Results - Edith Said

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  1. 1
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development by Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato

    Published 2020
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  2. 2
    Diagnosis and management of Silver–Russell syndrome: first international consensus statement

    Diagnosis and management of Silver–Russell syndrome: first international consensus statement by Emma Wakeling, Frédéric Brioude, Oluwakemi Lokulo‐Sodipe, Susan O’Çonnell, Jennifer Ben Salem, Jet Bliek, Ana Pinheiro Machado Canton, Krystyńa Chrzańowska, Justin H. Davies, Renuka Dias, B. Dubern, Miriam Elbracht, Éloïse Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken‐Koelega, Alexander A.L. Jorge, Masayo Kagami, Agnès Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip Murray, Tsutomu Ogata, Isabelle Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah Mackay, Irène Netchine

    Published 2016
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  3. 3
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy by Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David K. Manchester, Rie Miyata, Masaharu Hayashi, Edith Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth

    Published 2012
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  4. 4
    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 by 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

    Published 2021
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  5. 5
    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy by Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Brice Kauffmann, Michael Duchowny, Rikke S. Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben‐Zeev, Kaitlin E. Samocha, Mark J. Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki

    Published 2014
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  6. 6
    <i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

    <i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy by Susan Byrne, Max Janse, Jean-Marie U-King-Im, Ata Siddiqui, Hart G.W. Lidov, István Bódi, Luke J. Smith, R. Mein, Thomas Cullup, Carlo Dionisi‐Vici, Lihadh Al‐Gazali, Mohammed Al‐Owain, Zandrè Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni‐Baruch, Hanna Mandel, Efrat Dagan, Annick Raas‐Rothschild, Hila Barash, Francis Filloux, Donnell J. Creel, Michael A. Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi‐Fakhari, Georg F. Hoffmann, David K. Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenço, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline A. Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth

    Published 2016
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