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Home › Research › Topics › familial

familial

10 studies tagged familial, dated 2010-10-07 to 2021-09-03. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia 2021-09-03
  2. The APOE ε4 exerts differential effects on familial and other subtypes of Alzheimer's disease 2020-09-03
  3. Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease 2019-02-20

Studies

10 studies carry this tag.

Date range

2010 to 2021

Top journals

  • Alzheimer's & dementia : the journal of the Alzheimer's Association 2
  • Alzheimer's research & therapy 2
  • European journal of neurology 1
  • Journal of Alzheimer's disease : JAD 1
  • Molecular psychiatry 1

8 journals in all.

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. Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. European journal of neurology 2021-09-03 Biomarkers

    Our findings highlight the potential of serum NfL as a useful surrogate end point of disease severity in upcoming targeted treatments.

  2. The APOE ε4 exerts differential effects on familial and other subtypes of Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 57 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020-09-03 TREM2 and immune genetics

    APOE ε4 positive genotype may cause familial aggregation, and the investigation of multiple interventions targeting APOE pathological function to reduce the risk for this disease warrants attention.

  3. Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 64 out of 100. Alzheimer's research & therapy 2019-02-20 Biomarkers

    There is evidence that serum NfL is increased more than a decade before the onset of clinical symptoms in FAD and rises thereafter.

  4. Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms

    ✓ Peer-reviewed alzhub usefulness score 47 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2017-09-21 Genetics

    Our analysis confirms that the genetic factors identified for LOAD modulate risk in sLOAD and fLOAD and also sEOAD cohorts.

  5. Polygenic risk scores in familial Alzheimer disease

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Neurology 2017-02-17 Genetics

    High GRS increases the risk of familial LOAD and lowers the age at onset, regardless of ethnic group.

  6. Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 53 out of 100. Molecular psychiatry 2015-09-01 Genetics

    We have sequenced the complete genomes of 72 individuals affected with early-onset familial Alzheimer's disease caused by an autosomal dominant, highly penetrant mutation in the presenilin-1 (PSEN1) gene, and performed genome-wide association testing to identify variants that modify age at onset (AAO) of Alzheimer's disease.

  7. Biomarkers in Sporadic and Familial Alzheimer's Disease

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Journal of Alzheimer's disease : JAD 2015-01-01 Genetics

    Most forms of Alzheimer's disease (AD) are sporadic (sAD) or inherited in a non-Mendelian fashion, and less than 1% of cases are autosomal-dominant.

  8. BIN1 is decreased in sporadic but not familial Alzheimer's disease or in aging

    ✓ Peer-reviewed alzhub usefulness score 47 out of 100. PloS one 2013-10-21 Genetics

    Bridging integrator 1 (BIN1) has been implicated in sporadic Alzheimer's disease (AD) by a number of genome wide association studies (GWAS) in a variety of populations.

  9. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

    ✓ Peer-reviewed alzhub usefulness score 47 out of 100. Alzheimer's research & therapy 2012-08-20 Genetics

    We found pathogenic mutations in PSEN1, GRN and MAPT in 2.33% of the screened cases.

  10. Gamma-secretase gene mutations in familial acne inversa

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Science (New York, N.Y.) 2010-10-07 Risk genes beyond APOE

    Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic, recurrent, inflammatory disease of hair follicles that often runs in families.

All topic tags with their study counts