Evidence map›Paper›PMID 31920735›Full record

ArticleFrontiers in psychiatry2019

A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD.

Kaloyan R Stoychev, Maya Stoimenova-Popova, Petranka Chumpalova, Lilia Ilieva, Mohamed Swamad, Zornitsa Kamburova-Martinova

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 34% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Contributions of rare and common variation to early-onset and atypical dementia risk.medRxiv : the preprint server for health sciences · 2023
    Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 2 countries.

Kaloyan R StoychevDepartment of Psychiatry, Medical University Pleven, Pleven, Bulgaria.
Maya Stoimenova-PopovaDepartment of Psychiatry, Medical University Pleven, Pleven, Bulgaria.
Petranka ChumpalovaDepartment of Psychiatry, Medical University Pleven, Pleven, Bulgaria.
Lilia IlievaDepartment of Neurology, Sveti Panteleimon Hospital, Pleven, Bulgaria.
Mohamed SwamadDepartment of Health and Aging Unit, King's College Hospital, London, United Kingdom.
Zornitsa Kamburova-MartinovaDepartment of Microbiology and Medical Genetics, Medical University Pleven, Pleven, Bulgaria.
Medical University Pleven · BGKing's College Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dementia comprises several neurodegenerative disorders with similar neuropsychiatric features and Alzheimer's disease (AD) is the most common of them. Genetic factors are strongly implicated into its etiology especially for early-onset cases (EOAD) occuring before the age of 65. About 10% of these are inherited in autosomal dominant fashion

Indexed as

early onset Alzheimer’s disease (EOAD)genetic inheritancephenotypic heterogeneityPSEN1 mutationwhole exome sequencing

Identifiers

PMID31920735
PMCPMC6918796
OpenAlexW2995901563

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.