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Brugger, Melanie;Lauri, Antonella;Zhen, Yan;Gramegna, Laura L.;Zott, Benedikt;Sekulić, Nikolina;Fasano, Giulia;Kopajtich, Robert;Cordeddu, Viviana;Radio, Francesca Clementina;Mancini, Cecilia;Pizzi, Simone;Paradisi, Graziamaria;Zanni, Ginevra;Vasco, Gessica;Carrozzo, Rosalba;Palombo, Flavia;Tonon, Caterina;Lodi, Raffaele;La Morgia, Chiara;Arelin, Maria;Blechschmidt, Cristiane;Finck, Tom;Sørensen, Vigdis;Kreiser, Kornelia;Strobl-Wildemann, Gertrud;Daum, Hagit;Michaelson-Cohen, Rachel;Ziccardi, Lucia;Zampino, Giuseppe;Prokisch, Holger;Abou Jamra, Rami;Fiorini, Claudio;Arzberger, Thomas;Winkelmann, Juliane;Caporali, Leonardo;Carelli, Valerio;Stenmark, Harald;Tartaglia, Marco;Wagner, Matias
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
The American Journal of Human Genetics
2024
111
3
594-613

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Brunet, Theresa;Zott, Benedikt;Lieftüchter, Victoria;Lenz, Dominic;Schmidt, Axel;Peters, Philipp;Kopajtich, Robert;Zaddach, Malin;Zimmermann, Hanna;Hüning, Irina;Ballhausen, Diana;Staufner, Christian;Bianzano, Alyssa;Hughes, Joanne;Taylor, Robert W.;McFarland, Robert;Devlin, Anita;Mihaljević, Mihaela;Barišić, Nina;Rohlfs, Meino;Wilfling, Sibylle;Sondheimer, Neal;Hewson, Stacy;Marinakis, Nikolaos M.;Kosma, Konstantina;Traeger-Synodinos, Joanne;Elbracht, Miriam;Begemann, Matthias;Trepels-Kottek, Sonja;Hasan, Dimah;Scala, Marcello;Capra, Valeria;Zara, Federico;van der Ven, Amelie T.;Driemeyer, Joenna;Apitz, Christian;Krämer, Johannes;Strong, Alanna;Hakonarson, Hakon;Watson, Deborah;Mayr, Johannes A.;Prokisch, Holger;Meitinger, Thomas;Borggraefe, Ingo;Spiegler, Juliane;Baric, Ivo;Paolini, Marco;Gerstl, Lucia;Wagner, Matias
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Genetics in Medicine
2024
26
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Schneider, Sebastian C.;Kaczmarz, Stephan;Göttler, Jens;Kufer, Jan;Zott, Benedikt;Priller, Josef;Kallmayer, Michael;Zimmer, Claus;Sorg, Christian;Preibisch, Christine
Stronger influence of systemic than local hemodynamic-vascular factors on resting-state BOLD functional connectivity
NeuroImage
2023
281
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Zimmermann, Juliana;Sorg, Christian;Müller, Leander;Zistler, Franziska;Neumaier, Viktor;Bonhoeffer, Moritz;Ranft, Andreas;Golkowski, Daniel;Priller, Josef;Zimmer, Claus;Ilg, Rüdiger;Preibisch, Christine;Schneider, Gerhard;Nuttall, Rachel;Zott, Benedikt
Impaired Macroscopic Cerebrospinal Fluid Flow by Sevoflurane in Humans during and after Anesthesia
Anesthesiology
2025
142
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Zott, Benedikt;Nästle, Lea;Grienberger, Christine;Unger, Felix;Knauer, Manuel M.;Wolf, Christian;Keskin-Dargin, Aylin;Feuerbach, Anna;Busche, Marc Aurel;Skerra, Arne;Konnerth, Arthur
β-amyloid monomer scavenging by an anticalin protein prevents neuronal hyperactivity in mouse models of Alzheimer’s Disease
Nature Communications
2024
15
1