A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.
Masciullo
Marcella
M
Modoni
Anna
A
Fattori
Fabiana
F
Santoro
Massimo
M
Denora
Paola S
PS
Tonali
Pietro
P
Santorelli
Filippo M
FM
Silvestri
Gabriella
G
D000595:Amino Acid Sequence; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000378:metabolism / Q000473:pathology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology
D018389:Codon, Nonsense; D006360:Heat-Shock Proteins; C404403:SACS protein, human