檢索結果 - Anheim, Mathieu
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 由 Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
出版 2016Text -
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Critical illness-associated cerebral microbleeds for patients with severe COVID-19: etiologic hypotheses 由 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
出版 2020Text -
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Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) 由 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
出版 2016Text -
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders 由 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
出版 2018Text -
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Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements 由 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
出版 2019Text -
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Health-Related Quality of Life Is Severely Affected in Primary Orthostatic Tremor 由 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
出版 2018Text -
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Coronavirus Disease 2019: Associated Multiple Organ Damage 由 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
出版 2020Text -
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Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS 由 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
出版 2019Text -
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Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients 由 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
出版 2020Text -
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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus 由 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
出版 2020Text -
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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease 由 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.
出版 2015Text -
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Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease 由 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
出版 2020Text -
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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation 由 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.
出版 2020Text -
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update 由 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
出版 2017Text