Evidence map›Paper›PMID 38132465›Full record

ArticleCurrent issues in molecular biology2023

A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.

Danyeong Kim, Nayoung Ryoo, Young Ho Park, Eva Bagyinszky, Seong Soo Alexander An, SangYun Kim

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

Article in Current issues in molecular biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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 3 institutions in 1 country.

Danyeong KimDepartment of Bionano Technology, Gachon University, Seongnam 13120, Republic of Korea.ORCID 0000-0002-9346-5207
Nayoung RyooDepartment of Neurology, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 03083, Republic of Korea.
Young Ho ParkDepartment of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
Eva BagyinszkyGraduate School of Industrial and Environmental Engineering, Gachon University, Seongnam 13120, Republic of Korea.ORCID 0000-0002-0487-8668
Seong Soo Alexander AnDepartment of Bionano Technology, Gachon University, Seongnam 13120, Republic of Korea.ORCID 0000-0002-8123-6183
SangYun KimDepartment of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.ORCID 0000-0002-9101-5704
Gachon University · KRSeoul National University Bundang Hospital · KRCatholic University of Korea · KR

Funding

Ministry of Education's Basic Science Research Program NRF-2021R1A6A1A03038996the Gachon University Research Fund of 2019 all provided funding for the work done at the university GCU-2019-0815the National Research Foundation of Korea NRF-2020R1A2B5B01002463
6 · The paper itself

Abstract

Autosomal recessive spastic ataxia in Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder caused by mutations in the sacsin molecular chaperone protein (

Indexed as

ARSACSSACSsacsinopathy

Identifiers

PMID38132465
PMCPMC10741900
OpenAlexW4389574699

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.