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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease
Vo Van Giau, Jung-Min Pyun, Jeewon Suh, Eva Bagyinszky, Seong Soo A An, Sang Yun Kim. BMC neurology, 2019-08-07
Topic: Genetics and APOE
We report a case of EOAD having a pathogenic PSEN1 (Trp165Cys) confirmed with in silico and in vitro predictions.
Key findings
- We report a case of EOAD having a pathogenic PSEN1 (Trp165Cys) confirmed with in silico and in vitro predictions.
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Study details
- Evidence strengthLow
How this study scored 45/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 25 of the 56 points we could judge it on, which is 45 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (BMC neurology) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2019 — within 10 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 31391004) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 25 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 25 of the 56 points we could judge it on is 45 out of 100. |
| Total | 45 / 100 | — |
What each of these 20 components measures, and what this score is not →
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Van Giau, V., Pyun, J.-M., Suh, J., Bagyinszky, E., An, S. S. A., & Kim, S. Y. (2019). A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease. BMC neurology. https://doi.org/10.1186/s12883-019-1419-y
Vancouver
Van Giau V, Pyun J.-M, Suh J, Bagyinszky E, An SSA, Kim SY. A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease. BMC neurology. 2019. doi:10.1186/s12883-019-1419-y. PMID: 31391004.
BibTeX
@article{vangiau2019-31391004,
author = {Van Giau, Vo and Pyun, Jung-Min and Suh, Jeewon and Bagyinszky, Eva and An, Seong Soo A and Kim, Sang Yun},
title = {{A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease}},
journal = {BMC neurology},
year = {2019},
doi = {10.1186/s12883-019-1419-y},
pmid = {31391004},
url = {https://doi.org/10.1186/s12883-019-1419-y}
}