Journal Article

DZNE-2020-07214

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli, G. ; Schule, R.DZNE* ; van de Warrenburg, B. P. C. ; De Jonghe, P. ; Ewenczyk, C. ; Martinuzzi, A. ; Synofzik, M.DZNE* ; Hamer, E. G. ; Baets, J. ; Anheim, M. ; Schöls, L.DZNE* ; Deconinck, T. ; Masrori, P. ; Fontaine, B. ; Klockgether, T.DZNE* ; D'Angelo, M. G. ; Monin, M.-L. ; De Bleecker, J. ; Migeotte, I. ; Charles, P. ; Bassi, M. T. ; Klopstock, T.DZNE* ; Mochel, F. ; Ollagnon-Roman, E. ; D'Hooghe, M. ; Kamm, C. ; Kurzwelly, D.DZNE* ; Papin, M. ; Davoine, C.-S. ; Banneau, G. ; Tezenas du Montcel, S. ; Seilhean, D. ; Brice, A. ; Duyckaerts, C. ; Stevanin, G. ; Durr, A. (Corresponding author)

2019
Ovid [S.l.]

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Please use a persistent id in citations: doi:10.1212/WNL.0000000000007606

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

Keyword(s): White People: genetics (MeSH) ; ATPases Associated with Diverse Cellular Activities: genetics (MeSH) ; Adult (MeSH) ; Cerebellar Ataxia: genetics (MeSH) ; Cerebellar Ataxia: physiopathology (MeSH) ; Cohort Studies (MeSH) ; Electromyography (MeSH) ; European Continental Ancestry Group: genetics (MeSH) ; Female (MeSH) ; Humans (MeSH) ; Loss of Function Mutation (MeSH) ; Magnetic Resonance Imaging (MeSH) ; Male (MeSH) ; Metalloendopeptidases: genetics (MeSH) ; Middle Aged (MeSH) ; Paraplegia: genetics (MeSH) ; Paraplegia: physiopathology (MeSH) ; Phenotype (MeSH) ; Polymorphism, Single Nucleotide (MeSH) ; Spastic Paraplegia, Hereditary: genetics (MeSH) ; Spastic Paraplegia, Hereditary: physiopathology (MeSH) ; Young Adult (MeSH) ; Metalloendopeptidases ; SPG7 protein, human ; ATPases Associated with Diverse Cellular Activities

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Contributing Institute(s):

1. Functional Neurogeriatrics (AG Maetzler)
2. Parkinson Genetics (AG Gasser 1)
3. Clinical Neurogenetics (AG Schöls 1)
4. Patient studies (Patient studies, Bonn)
5. Clinical Dementia Research München (Clinical Dementia Research München)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)
2. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2019

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Database coverage:
; Allianz-Lizenz ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; IF >= 10 ; JCR ; SCOPUS ; Web of Science Core Collection

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