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Home › Research › Topics › mutations

mutations

5 studies tagged mutations, dated 2008-08-22 to 2019-01-01. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio 2019-01-01
  2. Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease 2018-01-01
  3. The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions 2010-07-14

Studies

5 studies carry this tag.

Date range

2008 to 2019

Top journals

  • Journal of Alzheimer's disease : JAD 2
  • European journal of human genetics : EJHG 1
  • European journal of neurology 1
  • Molecular and cellular neurosciences 1

Newest first, then by address. Each study has a usefulness score out of 100 (rubric version 4.0); tap a score to see what makes it up. Tags were assigned automatically from each study's title and summary. The same studies as a filter in the library.

  1. A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Journal of Alzheimer's disease : JAD 2019-01-01 Biomarkers

    The novel PSEN1 M139L mutation found in familial AD increases the Aβ42/Aβ40 ratio significantly.

  2. Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Journal of Alzheimer's disease : JAD 2018-01-01 Biomarkers

    Missense mutations in presenilin 1 cause early onset familial Alzheimer's disease in a way that is not understood.

  3. The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. European journal of human genetics : EJHG 2010-07-14 Biomarkers

    Early-onset dominantly inherited forms of Alzheimer's disease (AD) are rare, but studies of such cases have revealed important information about the disease mechanisms.

  4. Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Molecular and cellular neurosciences 2009-03-09 Biomarkers

    Alzheimer's disease is characterized by accumulation of toxic beta-amyloid (Abeta) in the brain and neuronal death.

  5. A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. European journal of neurology 2008-08-22 Biomarkers

    The possible pathogenic nature of the mutation is not clarified.

All topic tags with their study counts