Canlyniadau Chwilio - Méneret, Aurélie

GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders? gan Méneret, Aurélie, Roze, Emmanuel

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Treatable Hyperkinetic Movement Disorders Not to Be Missed gan Méneret, Aurélie, Garcin, Béatrice, Frismand, Solène, Lannuzel, Annie, Mariani, Louise-Laure, Roze, Emmanuel

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Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome gan Giron, Camille, Roze, Emmanuel, Degos, Bertrand, Méneret, Aurélie, Jardel, Claude, Lannuzel, Annie, Mochel, Fanny

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ADCY5-Related Dyskinesia: Comments on Characteristic Manifestations and Variant-Associated Severity gan Raskind, Wendy H., Friedman, Jennifer R., Roze, Emmanuel, Méneret, Aurélie, Chen, Dong-Hui, Bird, Thomas D.

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Anti-MOG associated disease with intracranial hypertension after COVID-19 vaccination gan Jeantin, Lina, Hesters, Adèle, Fournier, Dorine, Lebrun-Vignes, Bénédicte, Méneret, Aurélie, Papeix, Caroline, Touitou, Valérie, Maillart, Elisabeth

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KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins gan Marchionni, Enrica, Méneret, Aurélie, Keren, Boris, Melki, Judith, Denier, Christian, Durr, Alexandra, Apartis, Emmanuelle, Boespflug-Tanguy, Odile, Mochel, Fanny

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Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature gan Trouillard, Oriane, Koht, Jeanette, Gerstner, Thorsten, Moland, Siri, Depienne, Christel, Dusart, Isabelle, Méneret, Aurélie, Ruiz, Marta, Dubacq, Caroline, Roze, Emmanuel

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Identification of a Brain Network Underlying the Execution of Freely Chosen Movements gan Welniarz, Quentin, Roze, Emmanuel, Béranger, Benoît, Méneret, Aurélie, Vidailhet, Marie, Lehéricy, Stéphane, Pouget, Pierre, Hallett, Mark, Meunier, Sabine, Galléa, Cécile

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Multiparametric characterization of white matter alterations in early stage Huntington disease gan Adanyeguh, Isaac M., Branzoli, Francesca, Delorme, Cécile, Méneret, Aurélie, Monin, Marie-Lorraine, Luton, Marie-Pierre, Durr, Alexandra, Sabidussi, Emanoel, Mochel, Fanny

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De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia gan Wirth, Thomas, Méneret, Aurélie, Drouot, Nathalie, Rudolf, Gabrielle, Lagha Boukbiza, Ouhaid, Chelly, Jamel, Tranchant, Christine, Piton, Amélie, Roze, Emmanuel, Anheim, Mathieu

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Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect gan Hainque, Elodie, Gras, Domitille, Meneret, Aurélie, Atencio, Mariana, Luton, Marie-Pierre, Barbier, Magali, Doulazmi, Mohamed, Habarou, Florence, Ottolenghi, Chris, Roze, Emmanuel, Mochel, Fanny

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Delayed Benefit From Aggressive Immunotherapy in Waxing and Waning Anti-IgLON5 Disease gan Shambrook, Pauline, Hesters, Adèle, Marois, Clémence, Zemba, Daniel, Servan, Jérôme, Gaymard, Bertrand, Pico, Fernando, Delorme, Cécile, Lubetzki, Catherine, Arnulf, Isabelle, Psimaras, Dimitri, Honnorat, Jérôme, Gales, Ana, Méneret, Aurélie

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Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia gan Ruiz, Marta, Perez-Garcia, Georgina, Ortiz-Virumbrales, Maitane, Méneret, Aurelie, Morant, Andrika, Kottwitz, Jessica, Fuchs, Tania, Bonet, Justine, Gonzalez-Alegre, Pedro, Hof, Patrick R., Ozelius, Laurie J., Ehrlich, Michelle E.

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Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements gan Méneret, Aurélie, Roze, Emmanuel, Maranci, Jean-Baptiste, Dodet, Pauline, Doummar, Diane, Riant, Florence, Tranchant, Christine, Fraix, Valérie, Anheim, Mathieu, Ekmen, Asya, McGovern, Eavan, Vidailhet, Marie, Arnulf, Isabelle, Leu-Semenescu, Smaranda

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Non cell-autonomous role of DCC in the guidance of the corticospinal tract at the midline gan Welniarz, Quentin, Morel, Marie-Pierre, Pourchet, Oriane, Gallea, Cécile, Lamy, Jean-Charles, Cincotta, Massimo, Doulazmi, Mohamed, Belle, Morgane, Méneret, Aurélie, Trouillard, Oriane, Ruiz, Marta, Brochard, Vanessa, Meunier, Sabine, Trembleau, Alain, Vidailhet, Marie, Chédotal, Alain, Dusart, Isabelle, Roze, Emmanuel

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The supplementary motor area modulates interhemispheric interactions during movement preparation gan Welniarz, Quentin, Gallea, Cécile, Lamy, Jean‐Charles, Méneret, Aurélie, Popa, Traian, Valabregue, Romain, Béranger, Benoît, Brochard, Vanessa, Flamand‐Roze, Constance, Trouillard, Oriane, Bonnet, Cécilia, Brüggemann, Norbert, Bitoun, Pierre, Degos, Bertrand, Hubsch, Cécile, Hainque, Elodie, Golmard, Jean‐Louis, Vidailhet, Marie, Lehéricy, Stéphane, Dusart, Isabelle, Meunier, Sabine, Roze, Emmanuel

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A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood gan Hainque, Elodie, Caillet, Samantha, Leroy, Sandrine, Flamand-Roze, Constance, Adanyeguh, Isaac, Charbonnier-Beaupel, Fanny, Retail, Maryvonne, Le Toullec, Benjamin, Atencio, Mariana, Rivaud-Péchoux, Sophie, Brochard, Vanessa, Habarou, Florence, Ottolenghi, Chris, Cormier, Florence, Méneret, Aurélie, Ruiz, Marta, Doulazmi, Mohamed, Roubergue, Anne, Corvol, Jean-Christophe, Vidailhet, Marie, Mochel, Fanny, Roze, Emmanuel

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Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study gan Meira, Bruna, Degos, Bertrand, Corsetti, Elise, Doulazmi, Mohamed, Berthelot, Emeline, Virbel-Fleischman, Clara, Dodet, Pauline, Méneret, Aurélie, Mariani, Louise-Laure, Delorme, Cécile, Cormier-Dequaire, Florence, Bendetowicz, David, Villain, Nicolas, Tarrano, Clément, Mantisi, Lise, Letrillart, Hélène, Louapre, Céline, McGovern, Eavan, Worbe, Yulia, Grabli, David, Vidailhet, Marie, Hainque, Elodie, Roze, Emmanuel

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RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans gan Depienne, Christel, Bouteiller, Delphine, Méneret, Aurélie, Billot, Ségolène, Groppa, Sergiu, Klebe, Stephan, Charbonnier-Beaupel, Fanny, Corvol, Jean-Christophe, Saraiva, Jean-Paul, Brueggemann, Norbert, Bhatia, Kailash, Cincotta, Massimo, Brochard, Vanessa, Flamand-Roze, Constance, Carpentier, Wassila, Meunier, Sabine, Marie, Yannick, Gaussen, Marion, Stevanin, Giovanni, Wehrle, Rosine, Vidailhet, Marie, Klein, Christine, Dusart, Isabelle, Brice, Alexis, Roze, Emmanuel

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DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome gan Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie-Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer-Smith, Megan, Trouillard, Oriane, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J

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