Risultati della ricerca - Anheim, Mathieu
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 di Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Pubblicazione 2016testo -
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Critical illness-associated cerebral microbleeds for patients with severe COVID-19: etiologic hypotheses di 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
Pubblicazione 2020testo -
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Neurologic Features in Severe SARS-CoV-2 Infection di 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
Pubblicazione 2020testo -
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Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) di 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
Pubblicazione 2016testo -
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders di 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
Pubblicazione 2018testo -
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Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements di 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
Pubblicazione 2019testo -
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Health-Related Quality of Life Is Severely Affected in Primary Orthostatic Tremor di 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
Pubblicazione 2018testo -
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Coronavirus Disease 2019: Associated Multiple Organ Damage di 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
Pubblicazione 2020testo -
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Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS di 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
Pubblicazione 2019testo -
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Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients di 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
Pubblicazione 2020testo -
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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus di 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
Pubblicazione 2020testo -
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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease di 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.
Pubblicazione 2015testo -
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Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease di 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
Pubblicazione 2020testo -
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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation di 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.
Pubblicazione 2020testo -
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update di 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
Pubblicazione 2017testo