A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
Tessa
Alessandra
A
Silvestri
Gabriella
G
de Leva
Maria Fulvia
MF
Modoni
Anna
A
Denora
Paola S
PS
Masciullo
Marcella
M
Dotti
M Teresa
MT
Casali
Carlo
C
Melone
Mariarosa A B
MA
Federico
Antonio
A
Filla
Alessandro
A
Santorelli
Filippo M
FM
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics*
C500506:KIF5A protein, human; D016547:Kinesins