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Anzahl der Publikationen: 2
Zeitschriftenartikel
Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni und Durr, Alexandra
(2019):
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
In: Neurology, Bd. 92, Nr. 23, E2679-E2690
Obayashi, Masato; Stevanin, Giovanni; Synofzik, Matthis; Monin, Marie-Lorraine; Duyckaerts, Charles; Sato, Nozomu; Streichenberger, Nathalie; Vighetto, Alain; Desestret, Virginie; Tesson, Christelle; Wichmann, Heinz-Erich; Illig, Thomas; Huttenlocher, Johanna; Kita, Yasushi; Izumi, Yuishin; Mizusawa, Hidehiro; Schoels, Ludger; Klopstock, Thomas; Brice, Alexis; Ishikawa, Kinya und Dürr, Alexandra
(2015):
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
In: Journal if neurology, neurosurgery and psychiatry, Bd. 86, Nr. 9: S. 986-995
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