Zobrazeno 1 - 10
of 269
pro vyhledávání: '"Mathieu, Anheim"'
Autor:
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-patho
Externí odkaz:
https://doaj.org/article/6570a285e9844430857f2e885f205ade
Autor:
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Autor:
Matthieu Béreau, Anna Castrioto, Mathieu Servant, Eugénie Lhommée, Maxime Desmarets, Amélie Bichon, Pierre Pélissier, Emmanuelle Schmitt, Hélène Klinger, Nadine Longato, Clélie Phillipps, Thomas Wirth, Valérie Fraix, Isabelle Benatru, Franck Durif, Jean-Philippe Azulay, Elena Moro, Emmanuel Broussolle, Stéphane Thobois, Christine Tranchant, Paul Krack, Mathieu Anheim
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)
Abstract Few studies have considered the influence of motor sign asymmetry on motivated behaviors in de novo drug-naïve Parkinson’s disease (PD). We tested whether motor sign asymmetry could be associated with different motivated behavior patterns
Externí odkaz:
https://doaj.org/article/9e0fb56849fe48b1af8773b3bcc91c8c
Autor:
Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104931- (2024)
Summary: Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in indivi
Externí odkaz:
https://doaj.org/article/b26cd43fea5a421e9fcee91863d8d690
Autor:
Matthieu Béreau, Vincent Van Waes, Mathieu Servant, Eloi Magnin, Laurent Tatu, Mathieu Anheim
Publikováno v:
Cells, Vol 12, Iss 12, p 1599 (2023)
Apathy is commonly defined as a loss of motivation leading to a reduction in goal-directed behaviors. This multidimensional syndrome, which includes cognitive, emotional and behavioral components, is one of the most prevalent neuropsychiatric feature
Externí odkaz:
https://doaj.org/article/a08a38a3db494d9d89d370f260a30857
Autor:
Julie Helms, Stéphane Kremer, Hamid Merdji, Malika Schenck, François Severac, 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
Publikováno v:
Critical Care, Vol 24, Iss 1, Pp 1-11 (2020)
Abstract Background Neurotropism of SARS-CoV-2 and its neurological manifestations have now been confirmed. We aimed at describing delirium and neurological symptoms of COVID-19 in ICU patients. Methods We conducted a bicentric cohort study in two Fr
Externí odkaz:
https://doaj.org/article/c3b40ded9ce74b01a0041ff44ed7094e
Autor:
Andreas Traschütz, Selina Reich, Astrid D. Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H. Roxburgh, Filippo M. Santorelli, Tommaso Schirinzi, Deborah A. Sival, Dagmar Timmann, Stefan Vielhaber, Michael Wallner, Bart P. van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Rebecca Schüle, Ludger Schöls, PREPARE Consortium, Matthis Synofzik
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of targeted therapies for AR
Externí odkaz:
https://doaj.org/article/1b62630c9fef41afa8a9c50dfa927cff
Autor:
Christel Depienne, Sorana Ciura, Oriane Trouillard, Delphine Bouteiller, Elsa Leitã;o, Caroline Nava, Boris Keren, Yannick Marie, Justine Guegan, Sylvie Forlani, Alexis Brice, Mathieu Anheim, Yves Agid, Paul Krack, Philippe Damier, François Viallet, Jean-Luc Houeto, Franck Durif, Marie Vidailhet, Yulia Worbe, Emmanuel Roze, Edor Kabashi, Andreas Hartmann
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-9 (2019)
Background: Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing to TS in a French cohort of 120 individuals using a combination of hypothesis-driven and exome-sequencing approaches. Metho
Externí odkaz:
https://doaj.org/article/e842c99a3bf4474e9232b3335a4c7a75
Autor:
Mathilde Boussac, Christophe Arbus, Julia Dupouy, Estelle Harroch, Vanessa Rousseau, Aurélie Croiset, Fabienne Ory-Magne, Olivier Rascol, Caroline Moreau, Anne-Sophie Rolland, David Maltête, Tiphaine Rouaud, Mylène Meyer, Sophie Drapier, Bruno Giordana, Mathieu Anheim, Elodie Hainque, Béchir Jarraya, Isabelle Benatru, Nicolas Auzou, Lhaouas Belamri, Mélissa Tir, Ana-Raquel Marques, Stephane Thobois, Alexandre Eusebio, Jean Christophe Corvol, David Devos, Christine Brefel-Courbon, PREDI-STIM study group
Publikováno v:
PLoS ONE, Vol 16, Iss 1, p e0245142 (2021)
BackgroundStudies assessing personality dimensions by the "Temperament and Character Inventory" (TCI) have previously found an association between Parkinson's disease (PD) and lower Novelty Seeking and higher Harm Avoidance scores. Here, we aimed to
Externí odkaz:
https://doaj.org/article/6bc9f6308b4241f1962d02d86985a9e7
Autor:
François Lersy, Caroline Bund, Mathieu Anheim, Mary Mondino, Vincent Noblet, Shirley Lazzara, Clelie Phillipps, Olivier Collange, Walid Oulehri, Paul-Michel Mertes, Julie Helms, Hamid Merdji, Maleka Schenck, Francis Schneider, Julien Pottecher, Céline Giraudeau, Agathe Chammas, François-Daniel Ardellier, Seyyid Baloglu, Khalid Ambarki, Izzie Jacques Namer, Stéphane Kremer
Publikováno v:
Viruses, Vol 14, Iss 5, p 949 (2022)
Background and Objectives: Cerebral complications related to the COVID-19 were documented by brain MRIs during the acute phase. The purpose of the present study was to describe the evolution of these neuroimaging findings (MRI and FDG-PET/CT) and des
Externí odkaz:
https://doaj.org/article/27465bb38cde44149d762e6a515af2d7