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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid
Mike Mullan, Fiona Crawford, Karin Axelman, Henry Houlden, Lena Lilius, Bengt G. Winblad, Lars Lannfelt. Nature Genetics, 1992-08-01
Topic: Amyloid, tau and blood-test diagnosis
We do not hold a plain-English summary of this study yet. Use the links to the original below for its abstract and findings.
Why it matters
Reports a pathogenic mutation for probable Alzheimer's disease in the APP gene, at the N-terminus of β-amyloid.
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How this study scored 54/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on strength of evidence, so that was left out: it earned 51 of the 95 points we could judge it on, which is 54 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Nature Genetics) |
| Journal's citation record | 4 / 4 | Nature Genetics: journal h-index 776 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | — / 5 | No evidence rating recorded — left out of this score |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 1992 — older than 20 years, still counted |
| 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 | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 7 / 7 | Cited 1,522 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 42.3 citations a year over 36 year(s) since 1992 |
| Impact for its field and year | 6 / 6 | Cited 46.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 3 / 4 | Cited 104 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Lars Lannfelt: h-index 93 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Karolinska Institutet: institution h-index 1,477 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 1302033) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 51 / 95 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 51 of the 95 points we could judge it on is 54 out of 100. |
| Total | 54 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.
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. The record names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
APA 7th
Mullan, M., Crawford, F., Axelman, K., Houlden, H., Lilius, L., Winblad, B. G., et al. (1992). A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid. Nature Genetics. https://doi.org/10.1038/ng0892-345
Vancouver
Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad BG, et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid. Nature Genetics. 1992. doi:10.1038/ng0892-345. PMID: 1302033.
BibTeX
@article{mullan1992-1302033,
author = {Mullan, Mike and Crawford, Fiona and Axelman, Karin and Houlden, Henry and Lilius, Lena and Winblad, Bengt G. and Lannfelt, Lars},
title = {{A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid}},
journal = {Nature Genetics},
year = {1992},
doi = {10.1038/ng0892-345},
pmid = {1302033},
url = {https://doi.org/10.1038/ng0892-345}
}
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