title: Detection of a novel SPG4-nonsense-mutation in a large German pedigree with pure spastic paraplegia.
authors.forename: K
authors.initials: K
authors.lastname: Bürk
authors.forename: A
authors.initials: A
authors.lastname: Dalski
authors.forename: S
authors.initials: S
authors.lastname: Purmann
authors.forename: C
authors.initials: C
authors.lastname: Zühlke
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D002889:Chromosomes, Human, Pair 2; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005260:Female; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010264:Paraplegia / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D000074181:Spastin
chemical_list: D018389:Codon, Nonsense; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human; D007930:Leucine
references.citation: Neurology. 2000 Nov 14;55(9):1388-90
references.pmid: 11087788