%0 Journal Article
%A Schlipf, Nina A
%A Beetz, Christian
%A Schüle, Rebecca
%A Stevanin, Giovanni
%A Erichsen, Anne Kjersti
%A Forlani, Sylvie
%A Zaros, Cécile
%A Karle, Kathrin
%A Klebe, Stephan
%A Klimpe, Sven
%A Durr, Alexandra
%A Otto, Susanne
%A Tallaksen, Chantal M E
%A Riess, Olaf
%A Brice, Alexis
%A Bauer, Peter
%A Schöls, Ludger
%T A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
%J European journal of human genetics
%V 18
%N 9
%@ 1018-4813
%C Basingstoke
%I Stockton Press
%M DZNE-2020-02415
%P 1065-1067
%D 2010
%X The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60
%K Genes, Dominant
%K Humans
%K Membrane Transport Proteins: genetics
%K Mutation
%K Paraplegia: genetics
%K Membrane Transport Proteins (NLM Chemicals)
%K SLC33A1 protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:20461110
%2 pmc:PMC2987419
%R 10.1038/ejhg.2010.68
%U https://pub.dzne.de/record/136093