Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Stéphanie, Millecamps"'
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/b08aebba67f346b6a340f3cc87fac551
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP
Externí odkaz:
https://doaj.org/article/6c41a4f4e8fe4f95afcbf96cee484c70
Autor:
Elisa Teyssou, Laura Chartier, Delphine Roussel, Nirma D. Perera, Ivan Nemazanyy, Dominique Langui, Mélanie Albert, Thierry Larmonier, Safaa Saker, François Salachas, Pierre-François Pradat, Vincent Meininger, Philippe Ravassard, Francine Côté, Christian S. Lobsiger, Séverine Boillée, Bradley J. Turner, Danielle Seilhean, Stéphanie Millecamps
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 10, p 5694 (2022)
Mutations in profilin 1 (PFN1) have been identified in rare familial cases of Amyotrophic Lateral Sclerosis (ALS). PFN1 is involved in multiple pathways that could intervene in ALS pathology. However, the specific pathogenic role of PFN1 mutations in
Externí odkaz:
https://doaj.org/article/d755c887523b42e6bf965626df96c24f
Autor:
Bernadette Carroll, Elsje G. Otten, Diego Manni, Rhoda Stefanatos, Fiona M. Menzies, Graham R. Smith, Diana Jurk, Niall Kenneth, Simon Wilkinson, Joao F. Passos, Johannes Attems, Elizabeth A. Veal, Elisa Teyssou, Danielle Seilhean, Stéphanie Millecamps, Eeva-Liisa Eskelinen, Agnieszka K. Bronowska, David C. Rubinsztein, Alberto Sanz, Viktor I. Korolchuk
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
The cellular mechanisms underlying autophagy are conserved; however it is unclear how they evolved in higher organisms. Here the authors identify two oxidation-sensitive cysteine residues in the autophagy receptor SQSTM1/p62 in vertebrates which allo
Externí odkaz:
https://doaj.org/article/9d95b336540a41c68ad4e7b54566d6ac
Autor:
Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard
Publikováno v:
Genes, Vol 12, Iss 12, p 1876 (2021)
Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral s
Externí odkaz:
https://doaj.org/article/28db1369476748e281c246ae2fe0b477
Autor:
Cynthia Lefebvre-Omar, Elise Liu, Carine Dalle, Boris Lamotte d’Incamps, Stéphanie Bigou, Clément Daube, Léa Karpf, Marc Davenne, Noémie Robil, Coline Jost Mousseau, Stéphane Blanchard, Guillaume Tournaire, Charles Nicaise, François Salachas, Lucette Lacomblez, Danielle Seilhean, Christian S. Lobsiger, Stéphanie Millecamps, Séverine Boillée, Delphine Bohl
Publikováno v:
Cellular and Molecular Life Sciences. 80(6)
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron (MN) disease in adults with no curative treatment. Neurofilament (NF) level in patient’ fluids have recently emerged as the prime biomarker of ALS disease progression, while NF acc
Autor:
Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso, Kevin Mouzat
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 18, p 6807 (2020)
Mutations in the copper zinc superoxide dismutase 1 (SOD1) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all SOD1 pathogenic variants i
Externí odkaz:
https://doaj.org/article/084a8f0d1e4241d9bcaa3b77204d1b2a
Autor:
Matthieu Ribon, Lorenzo Schiaffino, Christian S Lobsiger, Michel Mallat, Pierre de la Grange, Félix Berriat, Danielle Seilhean, Delphine Bohl, Charlène Iltis, Séverine Boillée, Aude Chiot, Sakina Zaïdi, Ariane Jolly, Stéphanie Millecamps
Publikováno v:
Nature Neuroscience
Nature Neuroscience, 2020, 23 (11), pp.1339-1351. ⟨10.1038/s41593-020-00718-z⟩
Nature Neuroscience, 2020, 23 (11), pp.1339-1351. ⟨10.1038/s41593-020-00718-z⟩
International audience; Microglia and peripheral macrophages have both been implicated in amyotrophic lateral sclerosis (ALS), although their respective roles have yet to be determined. We now show that macrophages along peripheral motor neuron axons
Autor:
Jan H. Veldink, Edor Kabashi, Sylvie Dirrig-Grosch, Peter M Andersen, Najwa Ouali Alami, Luc Dupuis, Kirsten Sieverding, Axel Freischmidt, Natalia Mora, Albert C. Ludolph, Tobias M. Boeckers, Markus Margelisch, Philippe Couratier, Francesco Roselli, François Muratet, Andreas Sommacal, Chantal Sellier, Géraldine Lautrette, Erik Storkebaum, Markus Weber, Nick H.M. van Bakel, Stéphane Dieterlé, Stéphanie Millecamps, Kristel R. van Eijk, Jochen H. Weishaupt, Alberto Catanese, Kathrin Muller, Salim Megat, Xhuljana Mingaj, Christoph Neuwirth, Jason Sanogo, Hortense de Calbiac, Deniz Yilmazer-Hanke
The genetic basis of amyotrophic lateral sclerosis (ALS) is still incompletely understood. Using two independent genetic strategies, we show here that a large part of ALS heritability lies in genes expressed in inhibitory and excitatory neurons, espe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a41e6326cbbfff9095abfc6e283f98d4
https://doi.org/10.1101/2021.08.23.21262299
https://doi.org/10.1101/2021.08.23.21262299
Autor:
Stéphanie Millecamps, Aude-Marie Grapperon, Serge Lumbroso, François Salachas, Patrick Vourc'h, Aude Chiot, Delphine Bohl, Cécile Cazeneuve, Emilien Bernard, Anne-Laure Fauret-Amsellem, Kevin Mouzat, William Camu, Maria del Mar Amador, Christian S Lobsiger, Philippe Corcia, Beata Gyorgy, Séverine Boillée, Jean-Christophe Antoine, Shahram Attarian, Elisa Teyssou, Annie Verschueren, Yannick Marie, Claire Guissart, Jean-Philippe Camdessanché, Danielle Seilhean, Eric Leguern, François Muratet, Vincent Meininger, Justine Guegan
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (9), pp.942-949. ⟨10.1136/jnnp-2020-325921⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, 92 (9), pp.942-949. ⟨10.1136/jnnp-2020-325921⟩
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (9), pp.942-949. ⟨10.1136/jnnp-2020-325921⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, 92 (9), pp.942-949. ⟨10.1136/jnnp-2020-325921⟩
ObjectiveMutations in superoxide dismutase 1 gene (SOD1), encoding copper/zinc superoxide dismutase protein, are the second most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) motor neuron disease in populations of Euro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1bcdd954cf21224229083c5d45451d
https://hal.sorbonne-universite.fr/hal-03353407
https://hal.sorbonne-universite.fr/hal-03353407