%0 Journal Article
%A Coarelli, Giulia
%A Schule, Rebecca
%A van de Warrenburg, Bart P C
%A De Jonghe, Peter
%A Ewenczyk, Claire
%A Martinuzzi, Andrea
%A Synofzik, Matthis
%A Hamer, Elisa G
%A Baets, Jonathan
%A Anheim, Mathieu
%A Schöls, Ludger
%A Deconinck, Tine
%A Masrori, Pegah
%A Fontaine, Bertrand
%A Klockgether, Thomas
%A D'Angelo, Maria Grazia
%A Monin, Marie-Lorraine
%A De Bleecker, Jan
%A Migeotte, Isabelle
%A Charles, Perrine
%A Bassi, Maria Teresa
%A Klopstock, Thomas
%A Mochel, Fanny
%A Ollagnon-Roman, Elisabeth
%A D'Hooghe, Marc
%A Kamm, Christoph
%A Kurzwelly, Delia
%A Papin, Melanie
%A Davoine, Claire-Sophie
%A Banneau, Guillaume
%A Tezenas du Montcel, Sophie
%A Seilhean, Danielle
%A Brice, Alexis
%A Duyckaerts, Charles
%A Stevanin, Giovanni
%A Durr, Alexandra
%T Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
%J Neurology
%V 92
%N 23
%@ 0028-3878
%C [S.l.]
%I Ovid
%M DZNE-2020-07214
%P e2679-e2690
%D 2019
%X Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
%K White People: genetics
%K ATPases Associated with Diverse Cellular Activities: genetics
%K Adult
%K Cerebellar Ataxia: genetics
%K Cerebellar Ataxia: physiopathology
%K Cohort Studies
%K Electromyography
%K European Continental Ancestry Group: genetics
%K Female
%K Humans
%K Loss of Function Mutation
%K Magnetic Resonance Imaging
%K Male
%K Metalloendopeptidases: genetics
%K Middle Aged
%K Paraplegia: genetics
%K Paraplegia: physiopathology
%K Phenotype
%K Polymorphism, Single Nucleotide
%K Spastic Paraplegia, Hereditary: genetics
%K Spastic Paraplegia, Hereditary: physiopathology
%K Young Adult
%K Metalloendopeptidases (NLM Chemicals)
%K SPG7 protein, human (NLM Chemicals)
%K ATPases Associated with Diverse Cellular Activities (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:31068484
%2 pmc:PMC6556095
%R 10.1212/WNL.0000000000007606
%U https://pub.dzne.de/record/140892