Search Results - Marie‐Aude Spitz

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  1. 1
    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 by Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz, Kumaran Deiva, Soňa Nevšímalová, Cyril Mignot, Gaëtan Lesca, Nathalie Bednarek, Diane Doummar, Christine Piétrement, Vincent Laugel

    Published 2019
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  2. 2
    Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

    Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome by Nadège Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardò, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Obringer, Marie‐Aude Spitz, Miria Stefanini, Vincent Laugel, Donata Orioli, Tomoo Ogi, Alan R. Lehmann

    Published 2018
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  3. 3
    Increased diagnostic yield in complex dystonia through exome sequencing

    Increased diagnostic yield in complex dystonia through exome sequencing by Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly

    Published 2020
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  4. 4
    Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

    Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development by Ekaterina Ivanova, Frédéric Tran Mau‐Them, Saima Riazuddin, Kimia Kahrizi, Vincent Laugel, Élise Schaefer, Anne de Saint Martin, Karen Runge, Zafar Iqbal, Marie-Aude Spitz, Laura Mary, Nathalie Drouot, Bénédicte Gérard, Jean‐François Deleuze, Arjan P.M. de Brouwer, Attia Razzaq, Hélène Dollfus, Muhammad Zaman Khan Assir, Patrick Nitchké, Maria-Victoria Hinckelmann, Hilger H. Ropers, Sheikh Riazuddin, Hossein Najmabadi, Hans van Bokhoven, Jamel Chelly

    Published 2017
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  5. 5
    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation

    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</sc... by Pierre‐Yves Maillard, Sarah Baer, Élise Schaefer, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise F. Porter, Caroline Perriard, Marie‐Thérèse Abi Wardé, Marie‐Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothée Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis‐Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gérard, Julietta de Bellescize, Laurent Villard, Anne de Saint Martin, Mathieu Milh

    Published 2022
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  6. 6
    Delineating <i>FOXG1</i> syndrome

    Delineating <i>FOXG1</i> syndrome by Nancy Végas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Élise Schaefer, Tally Lerman‐Sagie, Dorit Lev, Magalie Barth, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Héron, Mathieu Milh, S. Rondeau, Caroline Michot, Stéphanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leïla Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Bénédicte Pontier, Baptiste Troude, François Rivier, Christophe Philippe, Thierry Bienvenu, Marie‐Aude Spitz, Amandine Béry, Nadia Bahi‐Buisson

    Published 2018
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