Výsledky vyhledávání - Affef Abidi

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  1. 1
    Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

    Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient Autor Affef Abidi, Cécile Mignon‐Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, Laurent Villard

    Vydáno 2015
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    Artigo
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  2. 2
    A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity

    A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity Autor Jérôme Devaux, Affef Abidi, Agathe Roubertie, Florence Molinari, Hélène Becq, Caroline Lacoste, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Vydáno 2016
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  3. 3
    Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols

    Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols Autor Walther Haenseler, Melanie Eschment, Bronwyn A. Evans, Marta Brasili, Joana Figueiro‐Silva, Fee Roethlisberger, Affef Abidi, David Jackson, Martín Müller, Sally A. Cowley, Ruxandra Bachmann‐Gagescu

    Vydáno 2025
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  4. 4
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations Autor Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    Vydáno 2015
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  5. 5
    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels Autor Affef Abidi, Jérôme Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine de la Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaëtan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Vydáno 2015
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  6. 6
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases Autor Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Vydáno 2015
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