Evidence map›Paper›PMID 35493319›Full record

ArticleFrontiers in molecular neuroscience2022

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in

Marlen Colleen Reis, Julia Patrun, Nibal Ackl, Pia Winter, Maximilian Scheifele, Adrian Danek, Dagmar Nolte

Open access · goldAbstract read
In one paragraph

Article in Frontiers in molecular neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 21% 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

5 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence ofInternational journal of molecular sciences · 2024
    Article
  3. Review
  4. Article
  5. Article
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

7 authors at 3 institutions in 2 countries.

Marlen Colleen ReisInstitut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.
Julia PatrunInstitut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.
Nibal AcklPsychiatrische Dienste Thurgau, Münsterlingen, Switzerland.
Pia WinterInstitut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.
Maximilian ScheifeleInstitut für Nuklearmedizin, Klinikum der Universität München, Munich, Germany.
Adrian DanekNeurologische Klinik und Poliklinik, Klinikum der Universität München, Munich, Germany.
Dagmar NolteInstitut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.
University of Giessen · DEKlinikum rechts der Isar · DESpital Thurgau (Switzerland) · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Heterozygous pathogenic variants in the STIP1 homologous and U-box containing protein 1 (

Indexed as

cryptic splice sitedementia syndromeintron retentionSCA17SCA48STUB1TBP

Identifiers

PMID35493319
PMCPMC9048483
OpenAlexW4223935361

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.