Zobrazeno 1 - 10
of 94
pro vyhledávání: '"S. Bauche"'
Akademický článek
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Autor:
Rouche A, Dominique Langui, Mégane Lemaitre, Asha Baskaran, Boëx M, Laure Strochlic, Mireille Montcouquiol, Cottin S, Jordi Molgó, Céline Buon, S. Bauche, Nathalie Sans, Julien Messéant, Halliez M, Arnaud Ferry, Amar M, Bertrand Fontaine
The development of the neuromuscular junction (NMJ) requires dynamic trans-synaptic coordination orchestrated by secreted factors, including the morphogens of the Wnt family. Yet, how the signal of these synaptic cues is transduced, and particularly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7d482b1fea74fe1a545cf692cbf1419
https://doi.org/10.1101/2020.11.26.384925
https://doi.org/10.1101/2020.11.26.384925
Publikováno v:
Current Opinion in Physiology. 4:88-95
The development and maintenance of the neuromuscular connectivity relies on a temporally fine-tuned balance of distinct bi-directional communication between motor neurons and their muscle targets. Disruption of this communication leads to functional
Akademický článek
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Autor:
Claire-Sophie Davoine, Michel Fardeau, Damien Sternberg, Emmanuel Fournier, Marie-Joséphine Fontenille, Arnaud Lacour, Norma B. Romero, Elodie De Bruyckere, D. Hantai, Julien Messéant, Geoffroy Vellieux, Sophie Nicole, Tanya Stojkovic, Sylvie Sukno, Françoise Bouhour, Jeanine Koenig, S. Bauche, E. Lacène, Pascal Laforêt, Lucie Wolf, Laure Strochlic, Guy Brochier, Bruno Eymard, Aleksandra Nadaj-Pakleza, Frédéric Chevessier, Véronique Manel, Nathalie Streichenberger, Bertrand Fontaine
Publikováno v:
Journal of Neurology
Journal of Neurology, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
Journal of Neurology, Springer Verlag, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
Journal of Neurology, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
Journal of Neurology, Springer Verlag, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
International audience; Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregate
Autor:
X. Latypova, Bertrand Fontaine, Fanny Laffargue, Céline Buon, S. Bauche, Julien Fauré, Alain Sureau, Arnaud Isapof, John Rendu, A. Bernabe Gelot, Damien Sternberg, Denis Furling, Bruno Eymard, Julien Messéant, M. Mayer, Marie-Christine Nougues, Myriam Boëx, Laure Strochlic
Publikováno v:
Neuromuscular Disorders. 30:S56-S57
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.269-284. ⟨10.3233/JND-170257⟩
Journal of Neuromuscular Diseases, 2017, 4 (4), pp.269-284. ⟨10.3233/JND-170257⟩
Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.269-284. ⟨10.3233/JND-170257⟩
Journal of Neuromuscular Diseases, 2017, 4 (4), pp.269-284. ⟨10.3233/JND-170257⟩
International audience; Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38f3da330e99b7e5a351fff8e9230e9a
https://hal.archives-ouvertes.fr/hal-03373788
https://hal.archives-ouvertes.fr/hal-03373788
Autor:
Seana O'Regan, Tiziana Mongini, Céline Buon, Anne Marie Beaufrere, Yoshiteru Azuma, Bertrand Fontaine, Hanns Lochmüller, S. Bauche, Ana Töpf, Chiara Fiorillo, Jean-François Deleuze, E. Lacène, Julien Thevenon, Gisèle Bonne, Damien Sternberg, C. Burloiu, Yannis Duffourd, Isabelle Desguerre, Isabelle Nelson, Guy Brochier, Anne Boland, Benoit Bœuf, Michèle Mayer, Laure Strochlic, Jocelyn Laporte, Laurence Faivre, Sophie Nicole, Ganaelle Remerand, Céline Pebrel-Richard, Laurent Servais, Federica Ricci, Guja Astrea, Doris Lechner, Salima El Chehadeh-Djebbar, Nassima Bouzidi, Fanny Laffargue, Bruno Eymard, Marie Christine Nougues, Norma B. Romero, Grace McMacken, Carmen Sandu, Niculina Butoianu
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
International audience; The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMS5), a clinically and genetically heterogeneous g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b7aaebb223eac493cf088535a38db5c
https://hal.science/hal-03993840
https://hal.science/hal-03993840
Akademický článek
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Autor:
Michel Fardeau, Laurent Schaeffer, Thierry Kuntzer, Isabelle Grosjean, Daniel Hantaï, A. Rouche, Annie Chaboud, Asma Ben Ammar, Nektaria Alexandri, Frédéric Chevessier, Caroline Huzé, Emmanuel Fournier, Andrea Brancaccio, K. Gaudon, Bruno Eymard, Jeanine Koenig, S. Bauche, Evelyne Goillot, Véronique Bernard, Heba-Aude Lecuyer, Pascale Richard, Markus A. Rüegg
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-67. 〈10.1016/j.ajhg.2009.06.015〉
American Journal of Human Genetics, vol. 85, no. 2, pp. 155-167
American Journal of Human Genetics, 2009, 85 (2), pp.155-67. ⟨10.1016/j.ajhg.2009.06.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-67. ⟨10.1016/j.ajhg.2009.06.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-167. ⟨10.1016/j.ajhg.2009.06.015⟩
The American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-67. 〈10.1016/j.ajhg.2009.06.015〉
American Journal of Human Genetics, vol. 85, no. 2, pp. 155-167
American Journal of Human Genetics, 2009, 85 (2), pp.155-67. ⟨10.1016/j.ajhg.2009.06.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-67. ⟨10.1016/j.ajhg.2009.06.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-167. ⟨10.1016/j.ajhg.2009.06.015⟩
The American Journal of Human Genetics
International audience; We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding agrin, an extracellular matrix molecule released by the nerve and critical for formation of the neuromuscular junction. Gene a