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Anzahl der Publikationen: 6
Zeitschriftenartikel
Vondel, Liedewei van de; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli und Baets, Jonathan
(2022):
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
In: Movement Disorders, Bd. 37, Nr. 6: S. 1175-1186
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]
Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej und Auer-Grumbach, Michaela
(2020):
The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME.
In: Neurology, Bd. 95, Nr. 24, E3163-E3179
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]
Schoels, Ludger; Rattay, Tim W.; Martus, Peter; Meisner, Christoph; Baets, Jonathan; Fischer, Imma; Jaegle, Christine; Fraidakis, Matthew J.; Martinuzzi, Andrea; Saute, Jonas Alex; Scarlato, Marina; Antenora, Antonella; Stendel, Claudia; Hoeflinger, Philip; Lourenco, Charles Marques; Abreu, Lisa; Smets, Katrien; Paucar, Martin; Deconinck, Tine; Bis, Dana M.; Wiethoff, Sarah; Bauer, Peter; Arnoldi, Alessia; Marques, Wilson; Jardim, Laura Bannach; Hauser, Stefan; Criscuolo, Chiara; Filla, Alessandro; Zuchner, Stephan; Bassi, Maria Teresa; Klopstock, Thomas; Jonghe, Peter de; Bjorkhem, Ingemar und Schuele, Rebecca
(2017):
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
In: Brain, Bd. 140: S. 3112-3127
Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schuele, Rebecca; Haack, Tobias B.; Schoening, Martin; Biskup, Saskia; Rudnik-Schoeneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krueger, Stefan; Kreuz, Friedmar; Bauer, Peter und Schoels, Ludger
(2013):
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
In: Orphanet Journal of Rare Diseases
8:41
[PDF, 1MB]