Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Autor: Ludger Schöls, Isabelle Migeotte, Claire Sophie Davoine, Mélanie Papin, Pegah Masrori, Bart P.C. van de Warrenburg, Rebecca Schüle, Mathieu Anheim, Marc D'Hooghe, Elisabeth Ollagnon-Roman, Charles Duyckaerts, Claire Ewenczyk, Andrea Martinuzzi, Jonathan Baets, Marie Lorraine Monin, Giulia Coarelli, T Deconinck, Maria Grazia D'Angelo, Sophie Tezenas du Montcel, Alexis Brice, Thomas Klockgether, Delia Kurzwelly, Fanny Mochel, Perrine Charles, Peter De Jonghe, Elisa E.G. Hamer, Matthis Synofzik, B. Fontaine, Maria Teresa Bassi, Christoph Kamm, Danielle Seilhean, Giovanni Stevanin, Thomas Klopstock, Jan De Bleecker, Alexandra Durr, Guillaume Banneau

Publikováno v: Neurology
Neurology, 92, e2679-e2690
Neurology, American Academy of Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩
Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606
Neurology, 92, 23, pp. e2679-e2690
Neurology, 92 (23

Objective: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7). Methods: We analyzed clinical and genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad13a0fe5a53812528a1024662571ae0
https://hdl.handle.net/10067/1619380151162165141