תוצאות חיפוש - Anheim, Mathieu
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 מאת Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
יצא לאור 2016Text -
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De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia מאת Wirth, Thomas, Méneret, Aurélie, Drouot, Nathalie, Rudolf, Gabrielle, Lagha Boukbiza, Ouhaid, Chelly, Jamel, Tranchant, Christine, Piton, Amélie, Roze, Emmanuel, Anheim, Mathieu
יצא לאור 2022Text -
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Critical illness-associated cerebral microbleeds for patients with severe COVID-19: etiologic hypotheses מאת 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
יצא לאור 2020Text -
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Neurologic Features in Severe SARS-CoV-2 Infection מאת 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
יצא לאור 2020Text -
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Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) מאת 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
יצא לאור 2016Text -
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders מאת 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
יצא לאור 2018Text -
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Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements מאת 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
יצא לאור 2019Text -
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Emerging topics in FXTAS מאת Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O’Keefe, Joanne, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A
יצא לאור 2014Text -
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Health-Related Quality of Life Is Severely Affected in Primary Orthostatic Tremor מאת 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
יצא לאור 2018Text -
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Erratum: Emerging topics in FXTAS מאת 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
יצא לאור 2015Text -
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Coronavirus Disease 2019: Associated Multiple Organ Damage מאת 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
יצא לאור 2020Text -
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Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS מאת 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
יצא לאור 2019Text -
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Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients מאת 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
יצא לאור 2020Text -
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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus מאת 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
יצא לאור 2020Text -
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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease מאת 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.
יצא לאור 2015Text -
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Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease מאת 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
יצא לאור 2020Text -
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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation מאת 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.
יצא לאור 2020Text -
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update מאת 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
יצא לאור 2017Text