Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation.
Di Fabio
Roberto
R
Tessa
Alessandra
A
Simons
Erik J
EJ
Santorelli
Filippo M
FM
Casali
Carlo
C
Serrao
Mariano
M
Pierelli
Francesco
F
Bonifati
Vincenzo
V
D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000077153:Progranulins
C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins