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8 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3 2024 . , Tim Lukas Elter \| Sturm, Daniel \| Santana, Magda \| Schaprian, Tamara \| Raposo, Mafalda \| Vieira Melo, Ana Rosa \| Lima, Manuela \| Koyak, Berkan \| Oender, Demet \| Grobe-Einsler, Marcus \| Lopes, Sara \| Silva, Patrick \| Pereira de Almeida, Luis \| Giunti, Paola \| Garcia-Moreno, Hector \| Nethisinhe, Suran \| de Vries, Jeroen \| van de Warrenburg, Bart P. \| van Gaalen, Judith \| Synofzik, Matthis \| Schöls, Ludger \| Reetz, Kathrin \| Erdlenbruch, Friedrich \| Jacobi, Heike \| Infante, Jon \| Riess, Olaf \| Klockgether, Thomas \| ESMI study group \| Timmann, Dagmar \| Thieme, Andreas \| Faber, Jennifer \| Hübener-Schmid, Jeannette	2024		http://purl.org/ontology/bibo/Article
Combined expansion and STED microscopy reveals altered fingerprints of postsynaptic nanostructure across brain regions in ASD-related SHANK3-deficiency 2024 . Delling, Jan Philipp \| Bauer, Helen Friedericke \| Gerlach-Arbeiter, Susanne \| Schön, Michael \| Jacob, Christian \| Wagner, Jan \| Pedro, Maria Teresa \| Knöll, Bernd \| Boeckers, Tobias	2024		http://purl.org/ontology/bibo/Article
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities 2024 . Kakar, Naseebullah \| Mascarenhas, Selinda \| Ali, Asmat \| Ijlal Haider, Syed M. \| Badiger, Vaishnavi Ashok \| Ghofrani, Mobina Shadman \| Kruse, Nathalie \| Hashmi, Sohana Nadeem \| Pozojevic, Jelena \| Balachandran, Saranya \| Toft, Mathias \| Malik, Sajid \| Händler, Kristian \| Fatima, Ambrin \| Iqbal, Zafar \| Shukla, Anju \| Spielmann, Malte \| Radhakrishnan, Periyasamy	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
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy 2021 . Parenti, Ilaria \| Lehalle, Daphné \| Nava, Caroline \| Torti, Erin \| Leitão, Elsa \| Person, Richard \| Mizuguchi, Takeshi \| Matsumoto, Naomichi \| Kato, Mitsuhiro \| Nakamura, Kazuyuki \| de Man, Stella \| Cope, Heidi \| Shashi, Vandana \| Friedman, Jennifer \| Joset, Pascal \| Steindl, Katharina \| Rauch, Anita \| Muffels, Irena \| van Hasselt, Peter M \| petit, florence \| Smol, Thomas \| Le Guyader, Gwenaël \| Bilan, Frédéric \| Sorlin, Arthur \| Vitobello, Antonio \| PHILIPPE, Christophe \| van de Laar, Ingrid \| van Slegtenhorst, Marjon A. \| Campeau, Philippe \| Au, Ping Yee \| Nakashima, Mitsuko \| Saitsu, Hirotomo \| Yamamoto, Tatsuya \| Nomura, Yumiko \| Louie, Raymond \| Lyons, Michael \| Dobson, Amy \| Plomp, Astrid S. \| Motazacker, M. Mahdi \| Kaiser, Frank J. \| Timberlake, Andrew \| Fuchs, Sabine \| Depienne, Christel \| Mignot, Cyril	2021		http://purl.org/ontology/bibo/Article
Knockdown of the prognostic cancer stem cell marker Musashi-1 decreases radio-resistance while enhancing apoptosis in hormone receptor-positive breast cancer cells via p21WAF1/CIP1 2021 . Troschel, Fabian M \| Palenta, Heike \| Borrmann, Katrin \| Heshe, Kristin \| Hua, San Hue \| Yip, George \| Kiesel, Ludwig \| Eich, Hans Theodor \| Götte, Martin \| Greve, Burkhard	2021		http://purl.org/ontology/bibo/Article
RGC-32 Acts as a Hub to Regulate the Transcriptomic Changes Associated With Astrocyte Development and Reactive Astrocytosis 2021 . Tatomir, Alexandru \| Beltrand, Austin \| Nguyen, Vinh \| Courneya, Jean-Paul \| Boodhoo, Dallas \| Cudrici, Cornelia \| Muresanu, Dafin F. \| Rus, Violeta \| Badea, Tudor C. \| Rus, Horea	2021		http://purl.org/ontology/bibo/Article
Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond 2020 . Kapitansky, Oxana \| Giladi, Eliezer \| Jaljuli, Iman \| Bereswill, Stefan \| Heimesaat, Markus M. \| Gozes, Illana	2020		http://purl.org/ontology/bibo/Article