Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability.
Casseron
W
W
Azulay
J P
JP
Guedj
E
E
Gastaut
J L
JL
Pouget
J
J
D000328:Adult; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000473:pathology; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000473:pathology; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D017827:Machado-Joseph Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011392:Proline / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins; D012694:Serine; D011392:Proline