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ARTICLE Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency Akin, Leyla; Rizzoti, Karine; Gregory, Louise C.; Corredor, Beatriz; Stabej, Polona Le Quesne; Williams, Hywel; Buonocore, Federica; Mouilleron, Stephane; Capra, Valeria; McGlacken-Byrne, Sinead M.; Martos-Moreno, Gabriel A.; Azmanov, Dimitar N.; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P.; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John C.; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; Maghnie, Mohamad; Gucev, Zoran; Gonen, Zeynep Burcin; Perez-Jurado, Luis A.; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesus; Dattani, Mehul T. 分享 收藏
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Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy Wishart, Thomas M.; Mutsaers, Chantal A.; Riessland, Markus; Reimer, Michell M.; Hunter, Gillian; Hannam, Marie L.; Eaton, Samantha L.; Fuller, Heidi R.; Roche, Sarah L.; Somers, Eilidh; Morse, Robert; Young, Philip J.; Lamont, Douglas J.; Hammerschmidt, Matthias; Joshi, Anagha; Hohenstein, Peter; Morris, Glenn E.; Parson, Simon H.; Skehel, Paul A.; Becker, Thomas; Robinson, Iain M.; Becker, Catherina G.; Wirth, Brunhilde; Gillingwater, Thomas H. 分享 收藏
Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes Diaper, Danielle C.; Adachi, Yoshitsugu; Sutcliffe, Ben; Humphrey, Dickon M.; Elliott, Christopher J. H.; Stepto, Alan; Ludlow, Zoe N.; Vanden Broeck, Lies; Callaerts, Patrick; Dermaut, Bart; Al-Chalabi, Ammar; Shaw, Christopher E.; Robinson, Iain M.; Hirth, Frank 分享 收藏
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Eps15 and Dap160 control synaptic vesicle membrane retrieval and synapse development Koh, Tong-Wey; Korolchuk, Viktor I.; Wairkar, Yogesh P.; Jiao, Wei; Evergren, Emma; Pan, Hongling; Zhou, Yi; Venken, Koen J. T.; Shupliakov, Oleg; Robinson, Iain M.; O'Kane, Cahir J.; Bellen, Hugo J. 分享 收藏
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