Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
在一项纳入241名SPG7患者的研究中,截瘫基因的缺失导致痉挛而非共济失调。
期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000007606
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; Schöls, 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; Tezenas du Montcel, Sophie; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni; Durr, Alexandra