TY  - GEN
AU  - Cannella,M
AU  - Martino,T
AU  - Simonelli,M
AU  - Ciammola,A
AU  - Gradini,R
AU  - Ciarmiello,A
AU  - Gianfrancesco,F
AU  - Squitieri,F
TI  - De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia
SN  - 1468-330X
PY  - 2007///1210
KW  - Adult
KW  - Brain
KW  - metabolism
KW  - Codon
KW  - genetics
KW  - DNA Repeat Expansion
KW  - Dementia
KW  - diagnosis
KW  - Early Diagnosis
KW  - Fluorodeoxyglucose F18
KW  - pharmacokinetics
KW  - Genotype
KW  - Humans
KW  - Italy
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Pedigree
KW  - Point Mutation
KW  - Polymorphism, Single Nucleotide
KW  - Positron-Emission Tomography
KW  - Prion Proteins
KW  - Prions
KW  - Radiopharmaceuticals
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1136/jnnp.2007.121137
ER  -