Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.
M
M
Masciullo
A
A
Modoni
A
A
Tessa
F M
FM
Santorelli
V
V
Rizzo
G
G
D'Amico
F
F
Laschena
T
T
Tartaglione
G
G
Silvestri
D000328:Adult; D001921:Brain / Q000473:pathology*; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D009128:Muscle Spasticity / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000235:genetics / Q000473:pathology
D006360:Heat-Shock Proteins; C404403:SACS protein, human