未登录Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
Jacquier, Arnaud; Risson, Valerie; Simonet, Thomas; Roussange, Florine; Lacoste, Nicolas; Ribault, Shams; Carras, Julien; Theuriet, Julian; Girard, Emmanuelle; Grosjean, Isabelle; Le Goff, Laure; Kroger, Stephan; Meltoranta, Julia; Bauche, Stephanie; Sternberg, Damien; Fournier, Emmanuel; Kostera-Pruszczyk, Anna; O'Connor, Emily; Eymard, Bruno; Lochmuller, Hanns; Martinat, Cecile; Schaeffer, Laurent .png)
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收藏A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and diseaseMalfatti, Edoardo; Catchpool, Tara; Nouioua, Sonia; Sihem, Hellal; Fournier, Emmanuel; Carlier, Robert Y.; Cardone, Nastasia; Davis, Mark R.; Laing, Nigel G.; Sternberg, Damien; Ravenscroft, Gianina 分享 收藏 Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA studyAnnoussamy, Melanie; Seferian, Andreea M.; Daron, Aurore; Pereon, Yann; Cances, Claude; Vuillerot, Carole; De Waele, Liesbeth; Laugel, Vincent; Schara, Ulrike; Gidaro, Teresa; Lilien, Charlotte; Hogrel, Jean-Yves; Carlier, Pierre; Fournier, Emmanuel; Lowes, Linda; Gorni, Ksenija; Ly-Le Moal, Myriam; Hellbach, Nicole; Seabrook, Timothy; Czech, Christian; Hermosilla, Ricardo; Servais, Laurent 分享 收藏 New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesBauche, Stephanie; Sureau, Alain; Sternberg, Damien; Rendu, John; Buon, Celine; Messeant, Julien; Boex, Myriam; Furling, Denis; Faure, Julien; Latypova, Xenia; Gelot, Antoinette Bernabe; Mayer, Michele; Mary, Pierre; Whalen, Sandra; Fournier, Emmanuel; Cloix, Isabelle; Remerand, Ganaelle; Laffargue, Fanny; Nougues, Marie-Christine; Fontaine, Bertrand; Eymard, Bruno; Isapof, Arnaud; Strochlic, Laure 分享 收藏 分享 收藏 Motor chronic inflammatory demyelinating polyneuropathy (CIDP) in 17 patients: Clinical characteristics, electrophysiological study, and response to treatmentPegat, Antoine; Boisseau, William; Maisonobe, Thierry; Debs, Rabab; Lenglet, Timothee; Psimaras, Dimitri; Azoulay-Cayla, Ariele; Fournier, Emmanuel; Viala, Karine 分享 收藏 A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signsKokunai, Yosuke; Dalle, Carine; Vicart, Savine; Sternberg, Damien; Pouliot, Valerie; Bendahhou, Said; Fournier, Emmanuel; Chahine, Mohamed; Fontaine, Bertrand; Nicole, Sophie 分享 收藏 Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsEchaniz-Laguna, Andoni; 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Musset, Lucile; Manuguerra, Jean-Claude; Despres, Philippe; Fournier, Emmanuel; Mallet, Henri-Pierre; Musso, Didier; Fontanet, Arnaud; Neil, Jean; Ghawche, Frederic 分享 收藏 Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations (vol 38, pg 2033, 2015)Beltrand, Jacques; Elie, Caroline; Busiah, Kanetee; Fournier, Emmanuel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Vera, Miriam; Bui-Quoc, Emmanuel; Ingster-Moati, Isabelle; Berdugo, Marianne; Simon, Albane; Gozalo, Claire; Djerada, Zoubir; Flechtner, Isabelle; Treluyer, Jean-Marc; Scharfmann, Raphael; Cave, Helene; Vaivre-Douret, Laurence; Polak, Michel 分享 收藏 Increase in cases of Guillain-Barre syndrome during a Chikungunya outbreak, French Polynesia, 2014 to 2015Oehler, E.; Fournier, E.; Leparc-Goffart, I.; Larre, P.; Cubizolle, S.; Sookhareea, C.; Lastere, S.; Ghawche, F. 分享 收藏 Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel MutationsBeltrand, Jacques; Elie, Caroline; Busiah, Kanetee; Fournier, Emmanuel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Vera, Miriam; Bui-Quoc, Emmanuel; Ingster-Moati, Isabelle; Berdugo, Marianne; Simon, Albane; Gozalo, Claire; Djerada, Zoubir; Flechtner, Isabelle; Treluyer, Jean-Marc; Scharfmann, Raphael; Cave, Helene; Vaivre-Douret, Laurence; Polak, Michel 分享 收藏 分享 收藏 Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patientsBruneteau, Gaelle; Bauche, Stephanie; de Aguilar, Jose Luis Gonzalez; Brochier, Guy; Mandjee, Nathalie; Tanguy, Marie-Laure; Hussain, Ghulam; Behin, Anthony; Khiami, Frederic; Sariali, Elhadi; Hell-Remy, Caroline; Salachas, Francois; Pradat, Pierre-Francois; Lacomblez, Lucette; Nicole, Sophie; Fontaine, Bertrand; Fardeau, Michel; Loeffler, Jean-Philippe; Meininger, Vincent; Fournier, Emmanuel; Koenig, Jeanine; Hantai, Daniel 分享 收藏 Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophyNicole, Sophie; Chaouch, Amina; 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Bauche, Stephanie; Mandjee, Nathalie; Malfatti, Edoardo; Girard, Emmanuelle; Tanguy, Marie-Laure; Behin, Anthony; Khiami, Frederic; Sariali, Elhadi; Hell-Remy, Caroline; Salachas, Francois; Pradat, Pierre-Francois; Fournier, Emmanuel; Lacomblez, Lucette; Koenig, Jeanine; Romero, Norma Beatriz; Fontaine, Bertrand; Meininger, Vincent; Schaeffer, Laurent; Hantai, Daniel 分享 收藏 
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