SEARCH RESULTS

94 RESULTS

PSEN1 L174del

MUTATIONS PSEN1 73653600 GRCh37 (105) CTG--- Exon 6 Deletion Coding Increased Aβ40, and decreased Aβ42 and Aβ42/Aβ40 in proband's CSF Unknown, proband MRI revealed slight temporal lobe atrophy. L174del Alzheimer's Disease: PathogenicAlzheimer's ...

PSEN1 I213L

MUTATIONS PSEN1 73659440 GRCh37 (105) rs63750861 A C Exon 7 Point, Missense Coding Increased Aβ40 and Aβ42 production, and an increase in the Aβ42:Aβ40 ratio as assessed in vitro. Unknown I213L Alzheimer's Disease: PathogenicAlzheimer's Disease This ...

PSEN1 F283L

MUTATIONS PSEN1 73664818 GRCh37 (105) T G Exon 8 Point, Missense Coding Unknown, but predicted to have a damaging effect according to SIFT, Polyphen, and Mutation Taster. Neuropathology consistent with AD; absence of CBD pathology (2 cases in 1 family). MRI showed ...

PSEN1 W165C (G> T)

MUTATIONS PSEN1 73653575 GRCh37 (105) G T Exon 6 Point, Missense Coding Unknown, but in silico analyses (SIFT and polyphen) predict the mutation is deleterious, probably damaging. Unknown, MRI showed diffuse cerebral and cerebellar atrophy in one case. W165C (G> ...

Current Filters

  • TYPE: Antibody x
  • TYPE: Research Models x
  • TYPE: Protocol x
  • TYPE: Alzpedia x
  • TYPE: Mutations x
  • TYPE: Biomarker Meta Analysis x
  • TYPE: Therapeutics x
  • Date Range : Feb 2019 to Feb 2020 x

Remove all filters

Filter By

DATE RANGE
TYPE
DATABASE