Suchergebnisse - Anheim, Mathieu
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 von Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Veröffentlicht 2016Text -
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De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia von Wirth, Thomas, Méneret, Aurélie, Drouot, Nathalie, Rudolf, Gabrielle, Lagha Boukbiza, Ouhaid, Chelly, Jamel, Tranchant, Christine, Piton, Amélie, Roze, Emmanuel, Anheim, Mathieu
Veröffentlicht 2022Text -
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Critical illness-associated cerebral microbleeds for patients with severe COVID-19: etiologic hypotheses von Lersy, François, Willaume, Thibault, Brisset, Jean-Christophe, Collange, Olivier, Helms, Julie, Schneider, Francis, Chammas, Agathe, Willaume, Alexandre, Meyer, Nicolas, Anheim, Mathieu, Cotton, François, Kremer, Stéphane
Veröffentlicht 2020Text -
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Neurologic Features in Severe SARS-CoV-2 Infection von Helms, Julie, Kremer, Stéphane, Merdji, Hamid, Clere-Jehl, Raphaël, Schenck, Malika, Kummerlen, Christine, Collange, Olivier, Boulay, Clotilde, Fafi-Kremer, Samira, Ohana, Mickaël, Anheim, Mathieu, Meziani, Ferhat
Veröffentlicht 2020Text -
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Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) von Guissart, Claire, Drouot, Nathalie, Oncel, Ibrahim, Leheup, Bruno, Gershoni-Barush, Ruth, Muller, Jean, Ferdinandusse, Sacha, Larrieu, Lise, Anheim, Mathieu, Arslan, Elif Acar, Claustres, Mireille, Tranchant, Christine, Topaloglu, Haluk, Koenig, Michel
Veröffentlicht 2016Text -
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders von Montaut, Solveig, Tranchant, Christine, Drouot, Nathalie, Rudolf, Gabrielle, Guissart, Claire, Tarabeux, Julien, Stemmelen, Tristan, Velt, Amandine, Fourrage, Cécile, Nitschké, Patrick, Gerard, Bénédicte, Mandel, Jean-Louis, Koenig, Michel, Chelly, Jamel, Anheim, Mathieu
Veröffentlicht 2018Text -
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Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements von 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
Veröffentlicht 2019Text -
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Health-Related Quality of Life Is Severely Affected in Primary Orthostatic Tremor von Maugest, Lucie, McGovern, Eavan M., Mazalovic, Katia, Doulazmi, Mohamed, Apartis, Emmanuelle, Anheim, Mathieu, Bourdain, Frédéric, Benchetrit, Eve, Czernecki, Virginie, Broussolle, Emmanuel, Bonnet, Cecilia, Falissard, Bruno, Jahanshahi, Marjan, Vidailhet, Marie, Roze, Emmanuel
Veröffentlicht 2018Text -
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Erratum: Emerging topics in FXTAS von Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O’Keefe, Joan A, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A
Veröffentlicht 2015Text -
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Coronavirus Disease 2019: Associated Multiple Organ Damage von Collange, Olivier, Tacquard, Charles, Delabranche, Xavier, Leonard-Lorant, Ian, Ohana, Mickaël, Onea, Mihaela, Anheim, Mathieu, Solis, Morgane, Sauer, Arnaud, Baloglu, Seyyid, Pessaux, Patrick, Ohlmann, Patrick, Kaeuffer, Charlotte, Oulehri, Walid, Kremer, Stephane, Mertes, Paul Michel
Veröffentlicht 2020Text -
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Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS von Amador, Maria-Del-Mar, Muratet, François, Teyssou, Elisa, Banneau, Guillaume, Danel-Brunaud, Véronique, Allart, Etienne, Antoine, Jean-Christophe, Camdessanché, Jean-Philippe, Anheim, Mathieu, Rudolf, Gabrielle, Tranchant, Christine, Fleury, Marie-Céline, Bernard, Emilien, Stevanin, Giovanni, Millecamps, Stéphanie
Veröffentlicht 2019Text -
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Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients von Helms, Julie, Kremer, Stéphane, Merdji, Hamid, Schenck, Malika, Severac, François, Clere-Jehl, Raphaël, Studer, Antoine, Radosavljevic, Mirjana, Kummerlen, Christine, Monnier, Alexandra, Boulay, Clotilde, Fafi-Kremer, Samira, Castelain, Vincent, Ohana, Mickaël, Anheim, Mathieu, Schneider, Francis, Meziani, Ferhat
Veröffentlicht 2020Text -
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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus von Piard, Juliette, Béreau, Matthieu, XiangWei, Wenshu, Wirth, Thomas, Amsallem, Daniel, Buisson, Lauren, Richard, Philippe, Liu, Nana, Xu, Yuchen, Myers, Scott J., Traynelis, Stephen F., Chelly, Jameleddine, Anheim, Mathieu, Raynaud, Martine, Van Maldergem, Lionel, Yuan, Hongjie
Veröffentlicht 2020Text -
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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease von Hirst, Jennifer, Edgar, James R., Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H., Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C., Robinson, Margaret S.
Veröffentlicht 2015Text -
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Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease von Prud'hon, Sabine, Bekadar, Samir, Rastetter, Agnès, Guégan, Justine, Cormier-Dequaire, Florence, Lacomblez, Lucette, Mangone, Graziella, You, Hana, Daniau, Mailys, Marie, Yannick, Bertrand, Hélène, Lesage, Suzanne, Tezenas Du Montcel, Sophie, Anheim, Mathieu, Brice, Alexis, Danjou, Fabrice, Corvol, Jean-Christophe
Veröffentlicht 2020Text -
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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation von Kim, Christine Y., Wirth, Thomas, Hubsch, Cécile, Németh, Andrea H., Okur, Volkan, Anheim, Mathieu, Drouot, Nathalie, Tranchant, Christine, Rudolf, Gabrielle, Chelly, Jamel, Tatton-Brown, Katrina, Blauwendraat, Cornelis, Vonsattel, Jean Paul G., Cortes, Etty, Alcalay, Roy N., Chung, Wendy K.
Veröffentlicht 2020Text -
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update von Patterson, Marc C., Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M., Ory, Daniel S., Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T., Walterfang, Mark, Marquardt, Thorsten
Veröffentlicht 2017Text