Ohcanbohtosat - Mathieu Anheim
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The inherited cerebellar ataxias: an update Dahkki Giulia Coarelli, Thomas Wirth, Christine Tranchant, Michel Kœnig, Alexandra Dürr, Mathieu Anheim
Almmustuhtton 2022Revisão -
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Cerebral vasculitis of medium-sized vessels as a possible mechanism of brain damage in COVID-19 patients Dahkki François Lersy, Mathieu Anheim, Thibault Willaume, Agathe Chammas, Jean‐Christophe Brisset, François Cotton, Stéphane Kremer
Almmustuhtton 2020Artigo -
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Critical illness-associated cerebral microbleeds for patients with severe COVID-19: etiologic hypotheses Dahkki François Lersy, Thibault Willaume, Jean‐Christophe Brisset, Olivier Collange, Julie Helms, Francis Schneider, Agathe Chammas, Alexandre Willaume, Nicolás Meyer, Mathieu Anheim, François Cotton, Stéphane Kremer
Almmustuhtton 2020Artigo -
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Neurologic Features in Severe SARS-CoV-2 Infection Dahkki Julie Helms, Stéphane Kremer, Hamid Merdji, Raphaël Clère-Jehl, M. Schenck, Christine Kummerlen, Olivier Collange, Clotilde Boulay, Samira Fafi‐Kremer, Mickaël Ohana, Mathieu Anheim, Ferhat Meziani
Almmustuhtton 2020Artigo -
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Emerging topics in FXTAS Dahkki Deborah A. Hall, Rachael Birch, Mathieu Anheim, Aia Elise Jønch, Elı́zabeth Pintado, Joanne O’Keefe, Julian N. Trollor, Glenn T. Stebbins, Randi J. Hagerman, Stanley Fahn, Elizabeth Berry‐Kravis, Maureen A. Leehey
Almmustuhtton 2014Revisão -
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders Dahkki Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gérard, Jean‐Louis Mandel, Michel Kœnig, Jamel Chelly, Mathieu Anheim
Almmustuhtton 2018Artigo -
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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Dahkki Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie‐Lorraine Monin, Kunié Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Philippe Lory, Giovanni Stévanin
Almmustuhtton 2015Artigo -
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Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients Dahkki Julie Helms, Stéphane Kremer, Hamid Merdji, M. Schenck, François Séverac, Raphaël Clere-Jehl, Antoine Studer, Mirjana Radosavljevic, Christine Kummerlen, Alexandra Monnier, Clotilde Boulay, Samira Fafi‐Kremer, Vincent Castelain, Mickaël Ohana, Mathieu Anheim, Francis Schneider, Ferhat Meziani
Almmustuhtton 2020Artigo -
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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease Dahkki Jennifer Hirst, James R. Edgar, Typhaine Esteves, Frédéric Darios, Marianna Madeo, Jaerak Chang, Ricardo H. Roda, Alexandra Dürr, Mathieu Anheim, Cinzia Gellera, Jun Li, Stephan Züchner, Caterina Mariotti, Giovanni Stévanin, Craig Blackstone, Michael C. Kruer, Margaret S. Robinson
Almmustuhtton 2015Artigo -
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Early‐Onset Parkinsonism Is a Manifestation of the <scp><i>PPP2R5D</i></scp> p.<scp>E200K</scp> Mutation Dahkki Christine Kim, Thomas Wirth, Cécile Hubsch, Andrea H. Németh, Volkan Okur, Mathieu Anheim, Nathalie Drouot, Christine Tranchant, Gabrielle Rudolf, Jamel Chelly, Katrina Tatton‐Brown, Cornelis Blauwendraat, Jean Paul Vonsattel, Etty Cortés, Roy N. Alcalay, Wendy K. Chung
Almmustuhtton 2020Artigo -
12
Recommendations for the detection and diagnosis of Niemann-Pick disease type C Dahkki Marc C. Patterson, Peter T. Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi‐Vici, Hans-Hermann Klünemann, Philippe Latour, Charles Marques Lourenço, Daniel S. Ory, Alasdair Parker, Miguel Pocovı́, Michael Strupp, Marie T. Vanier, Mark Walterfang, Thorsten Marquardt
Almmustuhtton 2017Revisão -
13
Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>) Dahkki Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Céline Bonnet, Thomas Bogdan, Andra Iosif, Audrey Schalk, Jean‐Baptiste Chanson, David Pellerin, Bernard Brais, Virginie Roth, Marion Wandzel, Marie‐Céline Fleury, Amélie Piton, Nadège Calmels, Izzie Jacques Namer, Stéphane Kremer, Christine Tranchant, M. Renaud, Mathieu Anheim
Almmustuhtton 2023Artigo -
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment Dahkki Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, A. Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stévanin, Isabelle Strubi-Vuillaume, Alexandra Dürr, Bernard Sablonnière
Almmustuhtton 2014Artigo -
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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation Dahkki Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, M. Renaud, Fabrice Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean‐Louis Mandel, Mark T. Bedford, Peter Bauer, Mustafa A. Salih, Rebecca Schüle, Lüdger Schöls, C. Marcelo Aldaz, Michel Kœnig
Almmustuhtton 2013Artigo -
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect Dahkki Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloé Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
Almmustuhtton 2018Artigo -
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Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial Dahkki Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin, Marie‐Lorraine Monin, Hortense Hurmic, Fabienne Calvas, Patrick Calvas, Cyril Goizet, Stéphane Thobois, Mathieu Anheim, Karine Nguyen, David Devos, Christophe Verny, Vito A. G. Ricigliano, Jean‐François Mangin, Alexis Brice, Sophie Tézenas du Montcel, Alexandra Dürr
Almmustuhtton 2022Artigo -
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Intronic<i>FGF14</i>GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy Dahkki David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie‐Josée Dicaire, Héctor García‐Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M. Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Lüdger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofzik
Almmustuhtton 2023Artigo -
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Repetitive Behaviours in Patients with Gilles de la Tourette Syndrome: Tics, Compulsions, or Both? Dahkki Yulia Worbe, Luc Mallet, Jean-Louis Golmard, Cécile Béhar, Franck Durif, Isabelle Jalenques, Philippe Damier, Pascal Derkinderen, Pierre Pollak, Mathieu Anheim, E. Broussolle, Jing Xie, Valérie Mesnage, Karl Mondon, François Viallet, Pierre Jedynak, Mouna Ben Djebara, Michaël Schüpbach, Antoine Pélissolo, Marie Vidailhet, Y. Agid, Jean Luc Houeto, Andréas Hartmann
Almmustuhtton 2010Artigo -
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ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency Dahkki Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, S. Makri, Lamia Alipacha, Traki Benhassine, Mathieu Anheim, David R. Lynch, Christelle Thibault-Carpentier, Frédéric Plewniak, Laurent Bianchetti, Christine Tranchant, Olivier Poch, Salvatore DiMauro, Jean‐Louis Mandel, Mário H. Barros, Michio Hirano, Michel Kœnig
Almmustuhtton 2008Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Medicine
Biology
Genetics
Gene
Ataxia
Internal medicine
Neuroscience
Disease
Psychiatry
Phenotype
Cerebellar ataxia
Pathology
Pediatrics
Psychology
Spinocerebellar ataxia
Cohort
Mutation
Parkinson's disease
Dystonia
Allele
Hereditary spastic paraplegia
Missense mutation
Parkinsonism
Bioinformatics
Exome sequencing
Genotype
Physical medicine and rehabilitation
Age of onset
Atrophy
Audiology