267205 RESULTS

PAPER Staffaroni AM, Goh SM, Cobigo Y, Ong E, Lee SE, Casaletto KB, Wolf A, Forsberg LK, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Hsiung GR, Kantarci K, Knopman DS, Kremers WK, Mackenzie IR, Miller BL, Pedraza O, Rascovsky K, Tartaglia MC, Wszolek ZK, Kramer JH, Kornak J, Boeve BF, Boxer AL, Rosen HJ, ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Consortium

Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.

JAMA Netw Open. 2020 Oct 1;3(10):e2022847. PubMed: 33112398


MUTATIONS APP 27372368 GRCh37 (105) rs773998162 A G Exon 7 Point, Missense Coding Unknown, but predicted to be damaging by PolyPhen-2 and tolerated by SIFT. Unknown, but MRI showed atrophy of the hippocampus and of the temporal and parietal lobes. D332G Alzheimer& ...


MUTATIONS APP 27372473 GRCh37 (105) rs557227002 C T Exon 7 Point, Missense Coding Unknown, but predicted to be damaging by PolyPhen-2 and deleterious by SIFT. Unknown. T297M Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This variant was ...

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