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Transthyretin Orchestrates Vitamin B12-Induced Stress Resilience Stein, Gregor; Aly, Janine S.; Manzolillo, Annamaria; Lange, Lisa; Riege, Konstantin; Hussain, Iqra; Heller, Elisabeth A.; Cubillos, Susana; Ernst, Thomas; Hubner, Christian A.; Turecki, Gustavo; Hoffmann, Steve; Engmann, Olivia 分享 收藏
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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity Maroofian, Reza; Sarraf, Payam; O'Brien, Thomas J.; Kamel, Mona; Cakar, Arman; Elkhateeb, Nour; Lau, Tracy; Patil, Siddaramappa Jagdish; Record, Christopher J.; Horga, Alejandro; Essid, Miriam; Selim, Laila; Benrhouma, Hanene; Ben Younes, Thouraya; Zifarelli, Giovanni; Pagnamenta, Alistair T.; Bauer, Peter; Khundadze, Mukhran; Mirecki, Andrea; Kamel, Sara Mahmoud; Elmonem, Mohamed A.; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Offiah, Amaka C.; Rossor, Alexander M.; Ben Youssef-Turki, Ilhem; Huebner, Christian A.; Munot, Pinki; Reilly, Mary M.; Brown, Andre E. X.; Nagy, Sara; Houlden, Henry 分享 收藏
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Biallelic variants in SLC4A10 encoding a sodiumdependent bicarbonate transporter lead to a neurodevelopmental disorder 编码钠依赖性碳酸氢盐转运蛋白的SLC4A10中的双等位基因变体导致神经发育障碍 Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K.; Calame, Daniel G.; Misra, Vinod K.; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E.; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M.; Emrick, Lisa; Chung, Wendy K.; Hellmich, Ute A.; Schmidts, Miriam; Lupski, James R.; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Huebner, Christian A. 分享 收藏
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Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients Krumm, Laura; Pozner, Tatyana; Zagha, Naime; Coras, Roland; Arnold, Philipp; Tsaktanis, Thanos; Scherpelz, Kathryn; Davis, Marie Y.; Kaindl, Johanna; Stolzer, Iris; Suess, Patrick; Khundadze, Mukhran; Huebner, Christian A.; Riemenschneider, Markus J.; Baets, Jonathan; Guenther, Claudia; Jayadev, Suman; Rothhammer, Veit; Krach, Florian; Winkler, Juergen; Winner, Beate; Regensburger, Martin 分享 收藏
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio 分享 收藏
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Lischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo 分享 收藏
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission Fasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Huebner, Christian A. 分享 收藏
Bumetanide induces post-traumatic microglia-interneuron contact to promote neurogenesis and recovery 布美他尼诱导创伤后小胶质细胞-中间神经元接触促进神经发生和恢复 Tessier, Marine; Garcia, Marta Saez; Goubert, Emmanuelle; Blasco, Edith; Consumi, Amandine; Dehapiot, Benoit; Tian, Li; Molinari, Florence; Laurin, Jerome; Guillemot, Francois; Huebner, Christian A.; Pellegrino, Christophe; Rivera, Claudio 分享 收藏
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Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function Kurth, Ingo; Thompson, Debra A.; Ruether, Klaus; Feathers, Kecia L.; Chrispell, Jared D.; Schroth, Jana; McHenry, Christina L.; Schweizer, Michaela; Skosyrski, Sergej; Gal, Andreas; Huebner, Christian A. 分享 收藏
Impact of Hypermannosylation on the Structure and Functionality of the ER and the Golgi Complex Franzka, Patricia; Schueler, Svenja Caren; Kentache, Takfarinas; Storm, Robert; Bock, Andrea; Katona, Istvan; Weis, Joachim; Buder, Katrin; Kaether, Christoph; Hubner, Christian A. 分享 收藏
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Genetic pain loss disorders 遗传性疼痛丧失障碍 Lischka, Annette; Lassuthova, Petra; cakar, Arman; Record, Christopher J.; Van Lent, Jonas; Baets, Jonathan; Dohrn, Maike F.; Senderek, Jan; Lampert, Angelika; Bennett, David L.; Wood, John N.; Timmerman, Vincent; Hornemann, Thorsten; Auer-Grumbach, Michaela; Parman, Yesim; Huebner, Christian A.; Elbracht, Miriam; Eggermann, Katja; Geoffrey Woods, C.; Cox, James J.; Reilly, Mary M.; Kurth, Ingo 分享 收藏
Histone demethylase KDM4C is a functional dependency in JAK2-mutated neoplasms Ernst, Philipp; Schnoder, Tina M.; Huber, Nicolas; Perner, Florian; Jayavelu, Ashok Kumar; Eifert, Theresa; Hsu, Chen-Jen; Tubio-Santamaria, Nuria; Crodel, Carl C.; Ungelenk, Martin; Hubner, Christian A.; Clement, Joachim H.; Hochhaus, Andreas; Heidel, Florian H. 分享 收藏
Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia Refisch, Alexander; Komatsuzaki, Shoko; Ungelenk, Martin; Chung, Ha-Yeun; Schumann, Andy; Schilling, Susann S.; Jantzen, Wibke; Schroeder, Sabine; Muehleisen, Thomas W.; Noethen, Markus M.; Huebner, Christian A.; Baer, Karl-Jurgen 分享 收藏
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