TY  - JOUR
AU  - Coarelli, Giulia
AU  - Schule, Rebecca
AU  - van de Warrenburg, Bart P C
AU  - De Jonghe, Peter
AU  - Ewenczyk, Claire
AU  - Martinuzzi, Andrea
AU  - Synofzik, Matthis
AU  - Hamer, Elisa G
AU  - Baets, Jonathan
AU  - Anheim, Mathieu
AU  - Schöls, Ludger
AU  - Deconinck, Tine
AU  - Masrori, Pegah
AU  - Fontaine, Bertrand
AU  - Klockgether, Thomas
AU  - D'Angelo, Maria Grazia
AU  - Monin, Marie-Lorraine
AU  - De Bleecker, Jan
AU  - Migeotte, Isabelle
AU  - Charles, Perrine
AU  - Bassi, Maria Teresa
AU  - Klopstock, Thomas
AU  - Mochel, Fanny
AU  - Ollagnon-Roman, Elisabeth
AU  - D'Hooghe, Marc
AU  - Kamm, Christoph
AU  - Kurzwelly, Delia
AU  - Papin, Melanie
AU  - Davoine, Claire-Sophie
AU  - Banneau, Guillaume
AU  - Tezenas du Montcel, Sophie
AU  - Seilhean, Danielle
AU  - Brice, Alexis
AU  - Duyckaerts, Charles
AU  - Stevanin, Giovanni
AU  - Durr, Alexandra
TI  - Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
JO  - Neurology
VL  - 92
IS  - 23
SN  - 0028-3878
CY  - [S.l.]
PB  - Ovid
M1  - DZNE-2020-07214
SP  - e2679-e2690
PY  - 2019
AB  - Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
KW  - White People: genetics
KW  - ATPases Associated with Diverse Cellular Activities: genetics
KW  - Adult
KW  - Cerebellar Ataxia: genetics
KW  - Cerebellar Ataxia: physiopathology
KW  - Cohort Studies
KW  - Electromyography
KW  - European Continental Ancestry Group: genetics
KW  - Female
KW  - Humans
KW  - Loss of Function Mutation
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Metalloendopeptidases: genetics
KW  - Middle Aged
KW  - Paraplegia: genetics
KW  - Paraplegia: physiopathology
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Spastic Paraplegia, Hereditary: genetics
KW  - Spastic Paraplegia, Hereditary: physiopathology
KW  - Young Adult
KW  - Metalloendopeptidases (NLM Chemicals)
KW  - SPG7 protein, human (NLM Chemicals)
KW  - ATPases Associated with Diverse Cellular Activities (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:31068484
C2  - pmc:PMC6556095
DO  - DOI:10.1212/WNL.0000000000007606
UR  - https://pub.dzne.de/record/140892
ER  -