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Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Alzheimers Res Ther. 2020 Nov 17;12(1):152. doi: 10.1186/s13195-020-00720-4.
Alzheimers Res Ther. 2020.
PMID: 33203472
Free PMC article.
A pathogenic mutation was found in 6 affected individuals (1 in PSEN1, 2 in PSEN2, 1 in GRN, 1 in MAPT, 1 in VCP). Eleven healthy at-risk relatives asked to undergo predictive testing and were included in the protocol. Three completed the protocol, including follow-up; one …
A pathogenic mutation was found in 6 affected individuals (1 in PSEN1, 2 in PSEN2, 1 in GRN, 1 in MAPT, 1 in VCP). Eleven healthy at-risk re …
Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype.
Shamirian S, Nalbandian A, Khare M, Castellani R, Kim R, Kimonis VE.
Shamirian S, et al.
Alzheimer Dis Assoc Disord. 2015 Jan-Mar;29(1):90-3. doi: 10.1097/WAD.0b013e318298e54f.
Alzheimer Dis Assoc Disord. 2015.
PMID: 23715207
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