Výsledky vyhledávání - 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? Autor Méneret, Aurélie, Roze, Emmanuel

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Treatable Hyperkinetic Movement Disorders Not to Be Missed Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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