Evidence map›Paper›PMID 38928084›Full record

ArticleInternational journal of molecular sciences2024

Compound Heterozygous Mutations of

Byung Kwon Pi, Yeon Hak Chung, Hyun Su Kim, Soo Hyun Nam, Ah Jin Lee, Da Eun Nam, Hyung Jun Park, Sang Beom Kim, Ki Wha Chung, Byung-Ok Choi

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2024. 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
–field-weighted citation impact
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.

  1. Article
  2. Article
  3. Frameshift and Copy Number Variants inNeurology. Genetics · 2025
    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

10 authors.

Byung Kwon PiDepartment of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea.
Yeon Hak ChungDepartment of Neurology, Korea University Guro Hospital, College of Medicine, Korea University, 148 Gurodong-ro, Guro-gu, Seoul 08308, Republic of Korea.ORCID 0000-0002-7052-2432
Hyun Su KimDepartment of Radiology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Republic of Korea.
Soo Hyun NamCell and Gene Therapy Institute, Samsung Medical Center, Gangnam-gu, Seoul 06351, Republic of Korea.
Ah Jin LeeDepartment of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea.
Da Eun NamDepartment of Domestic Business, Macrogen, Inc., 238 Teheran-ro, Gangnam-gu, Seoul 06221, Republic of Korea.
Hyung Jun ParkDepartment of Neurology, Gangnam Severance Hospital, College of Medicine, Yonsei University, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Republic of Korea.
Sang Beom KimDepartment of Neurology, Kyung Hee University Hospital at Gangdong, College of Medicine, Kyung Hee University, 892 Dongnam-ro, Gangdong-gu, Seoul 05278, Republic of Korea.
Ki Wha ChungDepartment of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea.ORCID 0000-0003-0363-8432
Byung-Ok ChoiCell and Gene Therapy Institute, Samsung Medical Center, Gangnam-gu, Seoul 06351, Republic of Korea.

Funding

Korean Fund for Regenerative Medicine, Ministry of Science and ICT, and Ministry of Health and Welfare 23C0115L1Korean Health Technology R&D Project, Ministry of Health and Welfare HR22C1363 and HX23C1756National Research Foundation of Korea 2021R1A4A2001389 and 2022R1I1A2068995NIEHS NIH HHS 27302C0115Sungkyunkwan University, Samsung Medical Center 2018-05-102-002
6 · The paper itself

Abstract

Mutations in the

Indexed as

Charcot-Marie-Tooth DiseaseHeterozygoteMuscle SpasticityMutationAdolescentAdultCerebellar AtaxiaCohort StudiesExome SequencingFemaleHeat-Shock ProteinsHumansMagnetic Resonance ImagingMaleMiddle AgedPedigreeHeat-Shock ProteinsSACS protein, humanautosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS)cerebellar ataxiaCharcot-Marie-Tooth disease (CMT)KoreanSACS

Identifiers

PMID38928084
PMCPMC11204044

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.