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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2021
Traschuetz, Andreas; Reich, Selina; Adarmes, Astrid D.; Anheim, Mathieu; Ashrafi, Mahmoud Reza; Baets, Jonathan; Basak, A. Nazli; Bertini, Enrico; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Hanagasi, Hasmet A.; Heinzmann, Anna; Horvath, Rita; Jonghe, Peter de; Kamm, Christoph; Klivenyi, Peter; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde; Roxburgh, Richard H.; Santorelli, Filippo M.; Schirinzi, Tommaso; Sival, Deborah A.; Timmann, Dagmar; Vielhaber, Stefan; Wallner, Michael; Warrenburg, Bart P. van de; Zanni, Ginevra; Zuchner, Stephan; Klockgether, Thomas; Schuele, Rebecca; Schols, Ludger und Synofzik, Matthis
(25. Juni 2021):
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
In: Frontiers in Neurology, Bd. 12, 677551
[PDF, 1MB]
Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; Warrenburg, Bart P. van de; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli und Synofzik, Matthis
(2021):
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
In: Neurology, Bd. 96, Nr. 9, E1369-E1382
Wilke, Carlo; Reich, Selina; Swieten, John C. van; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria C.; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R.; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Bocchetta, Martina; Todd, Emily; Kuhle, Jens; Barro, Christian; Rohrer, Jonathan D. und Synofzik, Matthis
(2021):
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
In: Annals of Neurology, Bd. 91, Nr. 1: S. 33-47
[PDF, 2MB]
2020
Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; Warrenburg, Bart van de; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; König, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene und Synofzik, Matthis
(2020):
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
In: Annals of Neurology, Bd. 88, Nr. 2: S. 251-263
[PDF, 7MB]
2019
Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Müller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda und Schuele, Rebecca
(2019):
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
In: Nature Communications, Bd. 10, 4790
[PDF, 2MB]