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Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy 新发SCN2A混合变异的功能表征及其与婴儿早期发育性癫痫性脑病关联性研究 Corradi, Anna; Riva, Antonella; Sterlini, Bruno; Morinelli, Lisastella; Ludovico, Alessandra; Madia, Francesca; Striano, Pasquale; Albini, Martina; Vitale, Paola; Pusch, Michael; Lombardo, Giulia; Elia, Maurizio; Chatron, Nicolas; Lesca, Gaetan; Zara, Federico; Falsaperla, Raffaele; Ferrera, Loretta 分享 收藏
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Interactomic exploration of LRRC8A in volume-regulated anion channels (vol 10, 387, 2024) Carpanese, Veronica; Festa, Margherita; Prosdocimi, Elena; Bachmann, Magdalena; Sadeghi, Soha; Bertelli, Sara; Stein, Frank; Velle, Angelo; Abdel-Salam, Mostafa A. L.; Romualdi, Chiara; Pusch, Michael; Checchetto, Vanessa 分享 收藏
TMEM9B Regulates Endosomal ClC-3 and ClC-4 Transporters TMEM9B调节内体ClC-3和ClC-4转运蛋白 Festa, Margherita; Coppola, Maria Antonietta; Angeli, Elena; Tettey-Matey, Abraham; Giusto, Alice; Mazza, Irene; Gatta, Elena; Barbieri, Raffaella; Picollo, Alessandra; Gavazzo, Paola; Pusch, Michael; Picco, Cristiana; Sbrana, Francesca 分享 收藏
Interactomic exploration of LRRC8A in volume-regulated anion channels Carpanese, Veronica; Festa, Margherita; Prosdocimi, Elena; Bachmann, Magdalena; Sadeghi, Soha; Bertelli, Sara; Stein, Frank; Velle, Angelo; Abdel-Salam, Mostafa A. L.; Romualdi, Chiara; Pusch, Michael; Checchetto, Vanessa 分享 收藏
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Basic Residues at Position 11 of α-Conotoxin LvIA Influence Subtype Selectivity between α3β2 and α3β4 Nicotinic Receptors via an Electrostatic Mechanism Α-芋螺毒素LvIA 11位的碱性残基通过静电机制影响 α3β2和 α3β4烟碱受体之间的亚型选择性 Haufe, Yves; Kuruva, Veeresh; Samanani, Ziyana; Lokaj, Gonxhe; Kamnesky, Guy; Shadamarshan, Pranavkumar; Shahoei, Rezvan; Katz, Dana; Sampson, Jared M.; Pusch, Michael; Brik, Ashraf; Nicke, Annette; Leffler, Abba E. 分享 收藏
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition 功能和临床研究揭示了CLCN4-related神经发育状况的病理生理复杂性 Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. 分享 收藏
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Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Melanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio 分享 收藏
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Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model 过度兴奋的中间神经元在Scn1a偏头痛模型中触发皮质扩散抑制 Auffenberg, Eva; Hedrich, Ulrike B. S.; Barbieri, Raffaella; Miely, Daniela; Groschup, Bernhard; Wuttke, Thomas, V; Vogel, Niklas; Luehrs, Philipp; Zanardi, Ilaria; Bertelli, Sara; Spielmann, Nadine; Gailus-Durner, Valerie; Fuchs, Helmut; de Angelis, Martin Hrabe; Pusch, Michael; Dichgans, Martin; Lerche, Holger; Gavazzo, Paola; Plesnila, Nikolaus; Freilinger, Tobias 分享 收藏
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