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Zebrafish fast muscle contractions avoid the mammalian requirement for voltage-gated Na+ channels Demesmay, Lea; Idoux, Romane; Berthier, Christine; Bernat, Claire; Espinosa, Leon; Jacquemond, Vincent; Brunet, Frederic; Maunier-Mercier, Angel; Lory, Philippe; Nicole, Sophie; Allard, Bruno 分享 收藏
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The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND 新发现的SCA42ND中影响Cav3.1通道细胞内闸门的de novo CACNA1G变异的特征分析,扩展了神经发育表型的谱系。 Qebibo, Leila; Davakan, Amael; Nesson-Dauphin, Mathilde; Boulali, Najlae; Siquier-Pernet, Karine; Afenjar, Alexandra; Amiel, Jeanne; Bartholdi, Deborah; Barth, Magalie; Blondiaux, Eleonore; Cristian, Ingrid; Frazier, Zoe; Goldenberg, Alice; Good, Jean-Marc; Salussolia, Catherine Lourdes; Sahin, Mustafa; McCullagh, Helen; McDonald, Kimberly; McRae, Anne; Morrison, Jennifer; Pinner, Jason; Shinawi, Marwan; Toutain, Annick; Vyhnalkova, Emilie; Wheeler, Patricia G.; Wilnai, Yael; Hausman-Kedem, Moran; Coolen, Marion; Cantagrel, Vincent; Burglen, Lydie; Lory, Philippe 分享 收藏
Structural basis for human Cav3.2 inhibition by selective antagonists 选择性拮抗剂抑制人Cav3.2的结构基础 Huang, Jian; Fan, Xiao; Jin, Xueqin; Lyu, Chen; Guo, Qinmeng; Liu, Tao; Chen, Jiaofeng; Davakan, Amael; Lory, Philippe; Yan, Nieng 分享 收藏
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Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons Bayo-Puxan, Neus; Terrasso, Ana Paula; Creyssels, Sophie; Simao, Daniel; Begon-Pescia, Christina; Lavigne, Marina; Salinas, Sara; Bernex, Florence; Bosch, Assumpcio; Kalatzis, Vasiliki; Levade, Thierry; Cuervo, Ana Maria; Lory, Philippe; Consiglio, Antonella; Brito, Catarina; Kremer, Eric J. 分享 收藏
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene Chemin, Jean; Siquier-Pernet, Karine; Nicouleau, Michaeel; Barcia, Giulia; Ahmad, Ali; Medina-Cano, Daniel; Hanein, Sylvain; Altin, Nami; Hubert, Laurence; Bole-Feysot, Christine; Fourage, Cecile; Nitschke, Patrick; Thevenon, Julien; Rio, Marlene; Blanc, Pierre; Vidal, Celine; Bahi-Buisson, Nadia; Desguerre, Isabelle; Munnich, Arnold; Lyonnet, Stanislas; Boddaert, Nathalie; Fassi, Emily; Shinawi, Marwan; Zimmerman, Holly; Amiel, Jeanne; Faivre, Laurence; Colleaux, Laurence; Lory, Philippe; Cantagrel, Vincent 分享 收藏
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CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism CACNA1H突变与不同形式的原发性醛固酮增多症相关 Daniil, Georgios; Fernandes-Rosa, Fabio L.; Chemin, Jean; Blesneac, Iulia; Beltrand, Jacques; Polak, Michel; Jeunemaitre, Xavier; Boulkroun, Sheerazed; Amar, Laurence; Strom, Tim M.; Lory, Philippe; Zennaro, Maria-Christina 分享 收藏
CACNA1H MUTATIONS ARE ASSOCIATED WITH YOUNG ONSET AND FAMILIAL FORMS OF PRIMARY ALDOSTERONISM CACNA1H突变与原发性醛固酮增多症的年轻发作和家族性形式有关 Daniil, G.; Fernandes-Rosa, F. L.; Chemin, J.; Jeunemaitre, X.; Polak, M.; Boulkroun, S.; Amar, L.; Strom, T. M.; Lory, P.; Zennaro, M. C. 分享 收藏
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Coutelier, Marie; Blesneac, Iulia; Monteil, Arnaud; Monin, Marie-Lorraine; Ando, Kunie; Mundwiller, Emeline; Brusco, Alfredo; Le Ber, Isabelle; Anheim, Mathieu; Castrioto, Anna; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Lory, Philippe; Stevanin, Giovanni 分享 收藏
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