Risultati della ricerca - Mathieu Anheim

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  1. 1
    Copertina

    Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia Autoría: Thomas Wirth, Emmanuel Roze, Clarisse Delvallée, Oriane Trouillard, Nathalie Drouot, Philippe Damier, Clotilde Boulay, Marine Bourgninaud, Prasanthi Jegatheesan, Aude Sangare, Sylvie Forlani, Bertrand Gaymard, Remi Hervochon, Vincent Navarro, Nadège Calmels, Audrey Schalk, Christine Tranchant, Amélie Piton, Aurélie Méneret, Mathieu Anheim

    Pubblicazione 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  2. 2
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    RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications Autoría: Edoardo Monfrini, Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaid Lagha‐Boukbiza, Zhidong Cen, Dehao Yang, Xinhui Chen, Reza Maroofian, Henry Houlden, Gioia Cappelletti, Anne‐Claire Richard, Olivier Quenez, Camilo Toro, Steven J. Frucht, Francesco Lotti, Wei Luo, David Hunt, Gael Nicolas, Giulietta M. Riboldi

    Pubblicazione 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  3. 3
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    STARDEV Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia Autoría: Diane Pina, Agathe Roubertie, Marie‐Aude Spitz, Claudia Ravelli, Nadia Bahi‐Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly‐Perin, Marie‐Christine Nougues, Benedicte Heron, Regis Lopez, Mathieu Anheim, Mélanie Fradin, Claude Cances, Justine Avez‐Couturier, Fabienne Dalmon, Gaëtan Lesca, Vincent Des Portes, Laurence Lion‐François

    Pubblicazione 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  4. 4
    Copertina

    ADCY5 ‐Mosaic Variants: A Diagnosis Not to Be Missed Autoría: Alice Innocenti, Emmanuel Roze, Florence Riant, Marie‐Céline François‐Heude, Bérénice Lecardonnel, Giacomo Garone, Maxime Colmard, Eline Chauvet‐Piat, Anne‐Cécile Chaux, Marie‐Aude Spitz, Beatrice Desnous, Catherine Sarret, Philippe Damier, Thomas Wirth, Mathieu Anheim, Emilie Retailleau, Estelle Conabady, Caroline Dubacq, Oriane Trouillard, Aurélie Méneret, Agathe Roubertie

    Pubblicazione 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  5. 5
    Copertina

    A Double‐Blind, Randomized, Placebo‐Controlled Trial of Bumetanide in Parkinson's Disease Autoría: Philippe Damier, Bertrand Degos, Giovanni Castelonovo, Mathieu Anheim, Isabelle Benatru, Nicolas Carrière, Olivier Colin, Luc Defebvre, Marie Deverdal, Alexandre Eusebio, Vanessa Ferrier, Caroline Giordana, Jean‐Luc Houeto, Severine Le Dily, Marie Mongin, Claire Thiriez, Christine Tranchant, Denis Ravel, Jean‐Christophe Corvol, Olivier Rascol, Yehezkel Ben Ari

    Pubblicazione 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  6. 6
    Copertina

    Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 ( MxMD ‐ ADCY5 ) Autoría: Aurélie Méneret, Clément Tarrano, Asya Ekmen, Diane Doummar, Victoria Gonzalez, Christine Tranchant, Mathieu Anheim, Philippe Damier, Eoin Mulroy, Kailash P. Bhatia, Laura Cif, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Florence Riant, Manon Gomes, Vanessa Brochard, Agathe Roubertie, Oriane Trouillard, Caroline Dubacq, Yulia Worbe, Mohamed Doulazmi, Emmanuel Roze

    Pubblicazione 2026
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  7. 7
    Copertina

    Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia Autoría: Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou

    Pubblicazione 2026
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  8. 8
    Copertina

    Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements Autoría: Clément Tarrano, Cécile Galléa, Asya Ekmen, Cécile Delorme, Eavan M. McGovern, Quentin Salardaine, Lina Daghsen, Manon Gomes, Vanessa Brochard, Eoin Mulroy, Kailash P. Bhatia, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Victoria Gonzalez, Diane Doummar, Christine Tranchant, Mathieu Anheim, Philippe Damier, Florence Riant, Mohamed Doulazmi, Agathe Roubertie, Caroline Dubacq, Oriane Trouillard, Romain Valabregue, Mélanie Didier, Benoit Beranger, Pierre Pouget, Marie Vidailhet, Sabine Meunier, Aurélie Méneret, Yulia Worbe, Emmanuel Roze

    Pubblicazione 2026
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  9. 9
    Copertina

    The Two Faces of Pediatric SCA2 Autoría: Nicolas Rive Le Gouard, Maissa G. Bah, Giulia Coarelli, Anna Heinzmann, Anne‐Laure Fauret, Jean‐Madeleine de Sainte‐Agathe, Cécile Cazeneuve, Anna Gerasimenko, Domitille Gras, Yline Capri, Mathilde Renaud, Bernard Brais, Cecile Grenenko, Alice Masurel, Patrick Berquin, Florence Jobic, Julia Métreau, Kumaran Deiva, Alexandra Afenjar, Victor Gravrand, Annie Lannuzel, Mathieu Anheim, Tobias Geis, Ute Hehr, Jennifer Madan Cohen, Béatrice Desnous, Anneke J. A. Kievit, Nadia Bahi‐buisson, Diana Rodriguez, Florence Renaldo, Claude Cances, David Devos, Chloé Angelini, Cyril Goizet, Claire Ewenczyk, Alexandra Durr, Cyril Mignot

    Pubblicazione 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  10. 10
    Copertina

    Neuropathy in GAA‐FGF14 Late‐Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics Autoría: Julian Theuriet, Lukas Paulet, Blandine Acket, Fabienne Ory‐Magne, Hocine Belbachir, Jean‐Baptiste Chanson, Françoise Bouhour, Chloé Laurencin, Caroline Froment Tilikete, Pierre Lardeux, Guillemette Clement, Armand Hocquel, Mathilde Renaud, Céline Bonnet, Cecilia Marelli, Sacha Weber, Camille Comet, Jean‐Philippe Azulay, Frédérique Fluchère, Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Christophe Verny, Virginie Guillet‐Pichon, Lucie Guyant‐Marechal, Clément Desjardins, Audrey Riou, Bertrand Degos, Sandra Mercier, Cyril Goizet, Manon Degoutin, Chloé Angelini, Brice Laurens, Adrian Degardin, Nicolas Carrière, Gwenaël Le Guyader, Vincent Schneider, Gwendoline Dupont, Quentin Thomas, Maxime Merindol, Elsa Besse‐Pinot, Aurélie Méneret, Emmanuel Roze, Alexandra Durr, Stéphane Thobois, Mathieu Anheim, Thomas Wirth, Antoine Pegat

    Pubblicazione 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  11. 11
    Copertina

    The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series Autoría: Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci

    Pubblicazione 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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