Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
Fabienne
F
Clot
David
D
Grabli
Pierre
P
Burbaud
Magali
M
Aya
Pascal
P
Derkinderen
Luc
L
Defebvre
Philippe
P
Damier
Pierre
P
Krystkowiak
Pierre
P
Pollak
Eric
E
Leguern
Chan
C
San
Agnès
A
Camuzat
Emmanuel
E
Roze
Marie
M
Vidailhet
Alexandra
A
Durr
Alexis
A
Brice
D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D009207:Myoclonus / Q000235:genetics / Q000503:physiopathology; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion
D051017:Apoptosis Regulatory Proteins; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human