par Kraft, Florian;Rodriguez-Aliaga, Piere;Yuan, Weimin;Franken, Lena;Zajt, Kamil;Hasan, Dimah;Lee, Ting-Ting;Flex, Elisabetta;Hentschel, Andreas;Innes, A Micheil;Zheng, Bixia;Julia Suh, Dong Sun;Knopp, Cordula;Lausberg, Eva;Krause, Jeremias;Zhang, Xiao-Meng;Trapane, Pamela;Carroll, Riley;McClatchey, Martin;Fry, Andrew A.E.;Wang, Lisa;Giesselmann, Sebastian;Hoang, Hieu;Baldridge, Dustin;Silverman, Gary A;Radio, Francesca Clementina;Bertini, Enrico;Ciolfi, Andrea;Blood, Katherine KA;de Sainte Agathe, Jean-Madeleine;Charles, Perrine;Bergant, Gaber;Čuturilo, Goran;Peterlin, Borut;Diderich, Karin;Streff, Haley;Robak, Laurie;Oegema, Renske;van Binsbergen, Ellen;Herriges, John;Saunders, Carol J;Maier, Andrea;Wolking, Stefan;Weber, Yvonne Y.G.;Lochmüller, Hanns;Meyer, Stefanie;Aleman, Alberto;Polavarapu, Kiran;Nicolas, Gaelle ;Goldenberg, Alice;Guyant, Lucie;Pope, Kathleen;Hehmeyer, Katherine KN;Monaghan, Kristin KG;Quade, Annegret;Smol, Thomas;Caumes, Roseline;Duerinckx, Sarah ;Depondt, Chantal;Van Paesschen, Wim;Rieubland, Claudine;Poloni, Claudia;Guipponi, Michel;Arcioni, Severine;Meuwissen, Marije E C;Jansen, Anna C M A.C.;Rosenblum, Jessica;Haack, Tobias Bernd;Bertrand, Miriam;Gerstner, Lea;Magg, Janine;Riess, Olaf;Schulz, Jörg B;Wagner, Norbert;Wiesmann, Martin;Weis, Joachim;Eggermann, Thomas;Begemann, Matthias;Roos, Andreas;Häusler, Martin;Schedl, Tim;Tartaglia, Marco;Bremer, Juliane;Pak, Stephen SC;Frydman, Judith;Elbracht, Miriam;Kurth, Ingo
Référence Science, 386, 6721, page (516-525)
Publication Publié, 2024-11-01
Référence Science, 386, 6721, page (516-525)
Publication Publié, 2024-11-01
Article révisé par les pairs
Titre: |
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Auteur: | Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiao-Meng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew A.E.; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine KA; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne Y.G.; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gaelle; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine KN; Monaghan, Kristin KG; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije E C; Jansen, Anna C M A.C.; Rosenblum, Jessica; Haack, Tobias Bernd; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen SC; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo |
Informations sur la publication: | Science, 386, 6721, page (516-525) |
Statut de publication: | Publié, 2024-11-01 |
Sujet CREF: | Sciences bio-médicales et agricoles |
MeSH keywords: | Humans |
Male | |
Brain -- abnormalities -- diagnostic imaging -- metabolism | |
Chaperonin Containing TCP-1 -- chemistry -- genetics -- metabolism | |
Fibroblasts -- metabolism | |
Intellectual Disability -- genetics -- metabolism | |
Protein Folding | |
Protein Subunits -- metabolism -- genetics | |
Proteome -- metabolism | |
Seizures -- diagnostic imaging -- genetics -- metabolism | |
Transcriptome | |
Magnetic Resonance Imaging | |
Caenorhabditis elegans | |
Adult | |
Langue: | Anglais |
Identificateurs: | urn:issn:0036-8075 |
info:doi/10.1126/science.adp8721 | |
info:pmid/39480921 |