Search Results - Florence Renaldo

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  1. 1
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion by Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    Published 2012
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  2. 2
    Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

    Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation by Imen Dorboz, Hélène Dumay‐Odelot, K. Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eléonore Eymard‐Pierre, Claude Cancès, Céline Bar, Anne‐Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug‐Tanguy

    Published 2018
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  3. 3
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients by Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    Published 2021
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  4. 4
    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 by 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

    Published 2015
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  5. 5
    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome by Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaëla Semeraro, Leo Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N Sambe, Elodie Henry, Valérie Jolaine, Christine Barnérias, Magalie Barth, Alexandre Bélot, Claude Cancès, François‐Guillaume Debray, Diane Doummar, Marie‐Louise Frémond, Naoki Kitabayashi, Alice Lepelley, Virginie Levrat, Isabelle Melki, Pierre Meyer, Marie‐Christine Nouguès, Florence Renaldo, Mathieu P. Rodero, Diana Rodriguez, Agathe Roubertie, Luís Seabra, Carolina Uggenti, Hendy Abdoul, Jean‐Marc Tréluyer, Isabelle Desguerre, Stéphane Blanche, Yanick J. Crow

    Published 2018
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  6. 6
    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU by Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

    Published 2017
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  7. 7
    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder by Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek‐Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas‐Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben‐Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter M. Anderson, Marcus Annable, Elizabeth Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Yi Qian

    Published 2016
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