Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Sylvie Forlani"'
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:
Laura Xicota, Julien Lagarde, Fanny Eysert, Benjamin Grenier-Boley, Isabelle Rivals, Alexandra Botté, Sylvie Forlani, Sophie Landron, Clément Gautier, Cecilia Gabriel, Michel Bottlaender, Jean-Charles Lambert, Mounia Chami, Marie Sarazin, Marie-Claude Potier
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Morphological alterations of the endosomal compartment have been widely described in post-mortem brains from Alzheimer’s disease (AD) patients and subjects with Down syndrome (DS) who are at high risk for AD. Immunostaining with antibodies
Externí odkaz:
https://doaj.org/article/b7f30749fb61429fb9afbbc24d6f5c53
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:
Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of
Externí odkaz:
https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e
Autor:
Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intro
Externí odkaz:
https://doaj.org/article/752a22f841ae41c284ab977e7ffdeead
Autor:
Suzanne Lesage, Marion Houot, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Sylvie Forlani, Mathieu Anheim, Christine Brefel-Courbon, Emmanuel Broussolle, Stéphane Thobois, Philippe Damier, Franck Durif, Emmanuel Roze, François Tison, David Grabli, Fabienne Ory-Magne, Bertrand Degos, François Viallet, Florence Cormier-Dequaire, Anne-Marie Ouvrard-Hernandez, Marie Vidailhet, Ebba Lohmann, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice, for the French Parkinson disease Genetics Study Group(PDG)
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
LRRK2, SNCA, and VPS35 are unequivocally associated with autosomal dominant Parkinson's disease (PD). We evaluated the prevalence of LRRK2, SNCA, and VPS35 mutations and associated clinical features in a large French multi-center cohort of PD patient
Externí odkaz:
https://doaj.org/article/ab626b59f2644450b53b69ad6bb750ad
Autor:
Sylvie Forlani, Jean-François Nicolas
Publikováno v:
Transgenic Animals ISBN: 9781003211099
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c904df0a21beb1ca9f7fe54a345e9f9
https://doi.org/10.1201/9781003211099-67
https://doi.org/10.1201/9781003211099-67
Autor:
Céline, Louapre, Michella, Ibrahim, Elisabeth, Maillart, Basma, Abdi, Caroline, Papeix, Bruno, Stankoff, Anne-Laure, Dubessy, Caroline, Bensa-Koscher, Alain, Créange, Zina, Chamekh, Catherine, Lubetzki, Anne-Geneviève, Marcelin, Jean-Christophe, Corvol, Valérie, Pourcher, Sylvie, Forlani
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-326904. ⟨10.1136/jnnp-2021-326904⟩
Journal of Neurology, Neurosurgery, and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-326904. ⟨10.1136/jnnp-2021-326904⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-326904. ⟨10.1136/jnnp-2021-326904⟩
Journal of Neurology, Neurosurgery, and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-326904. ⟨10.1136/jnnp-2021-326904⟩
BackgroundSARS-CoV-2 seroconversion rate after COVID-19 may be influenced by disease-modifying therapies (DMTs) in patients with multiple sclerosis (MS) or neuromyelitis optica spectrum disorders (NMO-SD).ObjectiveTo investigate the seroprevalence an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecdf5b2bf3e4203883ac8f3dc17b13ab
https://hal.sorbonne-universite.fr/hal-03471111
https://hal.sorbonne-universite.fr/hal-03471111
Autor:
Dario, Saracino, Karim, Dorgham, Agnès, Camuzat, Daisy, Rinaldi, Armelle, Rametti-Lacroux, Marion, Houot, Fabienne, Clot, Philippe, Martin-Hardy, Ludmila, Jornea, Carole, Azuar, Raffaella, Migliaccio, Florence, Pasquier, Philippe, Couratier, Sophie, Auriacombe, Mathilde, Sauvée, Claire, Boutoleau-Bretonnière, Jérémie, Pariente, Mira, Didic, Didier, Hannequin, David, Wallon, Olivier, Colliot, Bruno, Dubois, Alexis, Brice, Richard, Levy, Sylvie, Forlani
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Objective Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal traje
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::777852b77de793c65fe97bcb490afa65
https://pubmed.ncbi.nlm.nih.gov/34349004
https://pubmed.ncbi.nlm.nih.gov/34349004
Autor:
Matthis Synofzik, Holger Hengel, Kathrin Gonsior, Sandra Kuhs, Stefan Hauser, Thomas Klockgether, Jeannette Hübener-Schmid, Melanie Gansel, Dorothea Schumann, Olaf Rieß, Tim W. Rattay, Gabriele Anna Kaucher, Alexandra Durr, Sylvie Forlani, Patrik Pelz, Ludger Schöls
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (4), pp.1304-1315. ⟨10.1007/s00415-020-10274-y⟩
Journal of neurology 268(4), 1304-1315 (2020). doi:10.1007/s00415-020-10274-y
Journal of Neurology, Springer Verlag, 2021, 268 (4), pp.1304-1315. ⟨10.1007/s00415-020-10274-y⟩
Journal of neurology 268(4), 1304-1315 (2020). doi:10.1007/s00415-020-10274-y
In view of upcoming clinical trials, quantitative molecular markers accessible in peripheral blood are of critical importance as prognostic or pharmacodynamic markers in genetic neurodegenerative diseases such as Spinocerebellar Ataxia Type 3 (SCA3),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f23884e72f7dee1d732c0b19298fcdbf
https://hal.sorbonne-universite.fr/hal-03222950/file/Gonsior2021_Article_PolyQ-expandedAtaxin-3ProteinL.pdf
https://hal.sorbonne-universite.fr/hal-03222950/file/Gonsior2021_Article_PolyQ-expandedAtaxin-3ProteinL.pdf