Chronic Bickerstaff’s encephalitis with cognitive impairment, a reality?

por Renaud, Mathilde, Aupy, Jérôme, Camuset, Guillaume, Collongues, Nicolas, Chanson, Jean-Baptiste, de Seze, Jérôme, Blanc, Frédéric
Publicado 2014

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

por Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Publicado 2016

First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C

por Ravel, Jean‐Marie, Comel, Margot, Wandzel, Marion, Bronner, Myriam, Tatopoulos, Aurélie, Renaud, Mathilde, Lambert, Laëtitia, Bursztejn, Anne‐Claire, Bonnet, Céline
Publicado 2022

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

por Ravel, Jean-Marie, Renaud, Mathilde, Muller, Jean, Becker, Aurélie, Renard, Émeline, Remen, Thomas, Lefort, Geneviève, Dexheimer, Mylène, Jonveaux, Philippe, Leheup, Bruno, Bonnet, Céline, Lambert, Laëtitia
Publicado 2023

Inadequate Immune Humoral Response against JC Virus in Progressive Multifocal Leukoencephalopathy Non-Survivors

por Solis, Morgane, Guffroy, Aurélien, Lersy, François, Soulier, Eric, Gallais, Floriane, Renaud, Mathilde, Douiri, Nawal, Argemi, Xavier, Hansmann, Yves, De Sèze, Jérôme, Kremer, Stéphane, Fafi-Kremer, Samira
Publicado 2020

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

por Ashton, Catherine, Indelicato, Elisabetta, Pellerin, David, Clément, Guillemette, Danzi, Matt C, Dicaire, Marie-Josée, Bonnet, Céline, Houlden, Henry, Züchner, Stephan, Synofzik, Matthis, Lamont, Phillipa J, Renaud, Mathilde, Boesch, Sylvia, Brais, Bernard
Publicado 2023

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

por Becker, Aurélie, Felici, Charlotte, Lambert, Laëtitia, de Saint Martin, Anne, Abi‐Warde, Marie‐Thérèse, Schaefer, Elise, Zix, Christian, Zamani, Mina, Sadeghian, Saeid, Zeighami, Jawaher, Seifi, Tahereh, Azizimalamiri, Reza, Shariati, Gholamreza, Galehdari, Hamid, Selig, Mareike, Ding, Can, Duerinckx, Sarah, Pirson, Isabelle, Abramowicz, Marc, Clément, Guillemette, Leheup, Bruno, Jonveaux, Philippe, Lefort, Geneviève, Bronner, Myriam, Renaud, Mathilde, Bonnet, Céline
Publicado 2022

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

por Bonnet, Céline, Pellerin, David, Roth, Virginie, Clément, Guillemette, Wandzel, Marion, Lambert, Laëtitia, Frismand, Solène, Douarinou, Marian, Grosset, Anais, Bekkour, Ines, Weber, Frédéric, Girardier, Florent, Robin, Clément, Cacciatore, Stéphanie, Bronner, Myriam, Pourié, Carine, Dreumont, Natacha, Puisieux, Salomé, Iruzubieta, Pablo, Dicaire, Marie-Josée, Evoy, François, Rioux, Marie-France, Hocquel, Armand, La Piana, Roberta, Synofzik, Matthis, Houlden, Henry, Danzi, Matt C., Zuchner, Stephan, Brais, Bernard, Renaud, Mathilde
Publicado 2023

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

por Traschütz, Andreas, Reich, Selina, Adarmes, Astrid D., Anheim, Mathieu, Ashrafi, Mahmoud Reza, Baets, Jonathan, Basak, A. Nazli, Bertini, Enrico, Brais, Bernard, Gagnon, Cynthia, Gburek-Augustat, Janina, Hanagasi, Hasmet A., Heinzmann, Anna, Horvath, Rita, de Jonghe, Peter, Kamm, Christoph, Klivenyi, Peter, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Renaud, Mathilde, Roxburgh, Richard H., Santorelli, Filippo M., Schirinzi, Tommaso, Sival, Deborah A., Timmann, Dagmar, Vielhaber, Stefan, Wallner, Michael, van de Warrenburg, Bart P., Zanni, Ginevra, Zuchner, Stephan, Klockgether, Thomas, Schüle, Rebecca, Schöls, Ludger, Synofzik, Matthis
Publicado 2021

Implication of folate deficiency in CYP2U1 loss of function

por Pujol, Claire, Legrand, Anne, Parodi, Livia, Thomas, Priscilla, Mochel, Fanny, Saracino, Dario, Coarelli, Giulia, Croon, Marijana, Popovic, Milica, Valet, Manon, Villain, Nicolas, Elshafie, Shahira, Issa, Mahmoud, Zuily, Stephane, Renaud, Mathilde, Marelli-Tosi, Cécilia, Legendre, Marine, Trimouille, Aurélien, Kemlin, Isabelle, Mathieu, Sophie, Gleeson, Joseph G., Lamari, Foudil, Galatolo, Daniele, Alkouri, Rana, Tse, Chantal, Rodriguez, Diana, Ewenczyk, Claire, Fellmann, Florence, Kuntzer, Thierry, Blond, Emilie, El Hachimi, Khalid H., Darios, Frédéric, Seyer, Alexandre, Gazi, Anastasia D., Giavalisco, Patrick, Perin, Silvina, Boucher, Jean-Luc, Le Corre, Laurent, Santorelli, Filippo M., Goizet, Cyril, Zaki, Maha S., Picaud, Serge, Mourier, Arnaud, Steculorum, Sophie Marie, Mignot, Cyril, Durr, Alexandra, Trifunovic, Aleksandra, Stevanin, Giovanni
Publicado 2021