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5 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses 2024 . UNG, Dévina \| Pietrancosta, Nicolas \| Baz-Badillo, Elena \| Raux, Brigitt \| Tapken, Daniel \| Zlatanovic, Andjela \| Doridant, Adrien \| Pode-Shakked, Ben \| Raas-Rothschild, Annick \| Elpeleg, Orly \| Abu-Libdeh, Bassam \| Hamed, Nasrin \| Papon, Marie-Amélie \| Marouillat, Sylviane \| Thépault, Rose-Anne \| Stevanin, Giovanni \| Elegheert, Jonathan \| Letellier, Mathieu \| Hollmann, Michael \| lambolez, bertrand \| Tricoire, Ludovic \| Toutain, Annick \| HEPP, regine \| Laumonnier, Frédéric	2024		http://purl.org/ontology/bibo/Article
Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling 2024 . Guhathakurta, Debarpan \| Selzam, Franziska \| Petrušková, Aneta \| Weiss, Eva-Maria \| akdas, Enes Yagiz \| Montenegro Venegas, Carolina \| Zenker, Martin \| Fejtova, Anna	2024		http://purl.org/ontology/bibo/Article
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti 2024 . Eigemann, Jessica \| Janda, Ales \| Schuetz, Catharina \| Lee-Kirsch, Min Ae \| Schulz, Ansgar \| Hoenig, Manfred \| Furlan, Ingrid \| Jacobsen, Eva-Maria \| Zinngrebe, Julia \| Peters, Sarah \| Drewes, Cosima \| Siebert, Reiner \| Rump, Eva-Maria \| Führer, Marita \| Lorenz, Myriam \| Pannicke, Ulrich \| Kölsch, Uwe \| Debatin, Klaus-Michael \| von Bernuth, Horst \| Schwarz, Klaus \| Felgentreff, Kerstin	2024		http://purl.org/ontology/bibo/Article
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies 2024 . Borisch, Carla \| Thum, Thomas \| Bär, Christian \| Hoepfner, Jeannine	2024		http://purl.org/ontology/bibo/Article
A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors 2024 . Swift, Imogen J. \| Rademakers, Rosa \| Finch, NiCole \| Baker, Matt \| Ghidoni, Roberta \| Benussi, Luisa \| Binetti, Giuliano \| Rossi, Giacomina \| Synofzik, Matthis \| Wilke, Carlo \| Mengel, David \| Graff, Caroline \| Takada, Leonel T. \| Sánchez-Valle, Raquel \| Antonell, Anna \| Galimberti, Daniela \| Fenoglio, Chiara \| Serpente, Maria \| Arcaro, Marina \| Schreiber, Stefanie \| Vielhaber, Stefan \| Arndt, Philipp \| Santana, Isabel \| Almeida, Maria Rosario \| Moreno, Fermín \| Barandiaran, Myriam \| Gabilondo, Alazne \| Stubert, Johannes \| Gómez-Tortosa, Estrella \| Agüero, Pablo \| Sainz, M. José \| Gohda, Tomohito \| Murakoshi, Maki \| Kamei, Nozomu \| Kittel-Schneider, Sarah \| Reif, Andreas \| Weigl, Johannes \| Jian, Jinlong \| Liu, Chuanju \| Serrero, Ginette \| Greither, Thomas \| Theil, Gerit \| Lohmann, Ebba \| Gazzina, Stefano \| Bagnoli, Silvia \| Coppola, Giovanni \| Bruni, Amalia \| Quante, Mirja \| Kiess, Wieland \| Hiemisch, Andreas \| Jurkutat, Anne \| Block, Matthew S. \| Carlson, Aaron M. \| Bråthen, Geir \| Sando, Sigrid Botne \| Grøntvedt, Gøril Rolfseng \| Lauridsen, Camilla \| Heslegrave, Amanda \| Heller, Carolin \| Abel, Emily \| Gómez-Núñez, Alba \| Puey, Roger \| Arighi, Andrea \| Rotondo, Enmanuela \| Jiskoot, Lize C. \| Meeter, Lieke H. H. \| Durães, João \| Lima, Marisa \| Tábuas-Pereira, Miguel \| Lemos, João \| Boeve, Bradley \| Petersen, Ronald C. \| Dickson, Dennis W. \| Graff-Radford, Neill R. \| LeBer, Isabelle \| Sellami, Leila \| Lamari, Foudil \| Clot, Fabienne \| Borroni, Barbara \| Cantoni, Valentina \| Rivolta, Jasmine \| Lleó, Alberto \| Fortea, Juan \| Alcolea, Daniel \| Illán-Gala, Ignacio \| Andres-Cerezo, Lucie \| Van Damme, Philip \| Clarimon, Jordi \| Steinacker, Petra \| Feneberg, Emily \| Otto, Markus \| van der Ende, Emma L. \| van Swieten, John C. \| Seelaar, Harro \| Zetterberg, Henrik \| Sogorb-Esteve, Aitana \| Rohrer, Jonathan D.	2024		http://purl.org/ontology/bibo/Article