NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
Klebe
Stephan
S
Lacour
Arnaud
A
Durr
Alexandra
A
Stojkovic
Tanya
T
Depienne
Christel
C
Forlani
Sylvie
S
Poea-Guyon
Sandrine
S
Vuillaume
Isabelle
I
Sablonniere
Bernard
B
Vermersch
Patrick
P
Brice
Alexis
A
Stevanin
Giovanni
G
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002648:Child; D005060:Europe; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010264:Paraplegia / Q000235:genetics*
D008565:Membrane Proteins; C478824:NIPA1 protein, human