Evidence map›Paper›PMID 36600740›Full record

ArticleSurgical neurology international2022

A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam.

Anh Tuan Truong, Anh Thi Lan Luong, Linh Hai Nguyen, Huong Van Nguyen, Diep Ngoc Nguyen, Ngoc Thi Minh Nguyen

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

Article in Surgical neurology international, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 61% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

6 authors at 1 institution in 1 country.

Anh Tuan TruongDepartment of Clinical Medicine, Nam Dinh University of Nursing, Nam Dinh, Vietnam.
Anh Thi Lan LuongDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi, Vietnam.
Linh Hai NguyenDepartment of Neurology, Hanoi Medical University, Hanoi, Vietnam.
Huong Van NguyenDepartment of Neurology, Hanoi Medical University, Hanoi, Vietnam.
Diep Ngoc NguyenInstitute of Theoretical and Applied Research (ITAR), School of Medicine and Pharmacy, Duy Tan University, Da Nang, Vietnam.
Ngoc Thi Minh NguyenDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi, Vietnam.
Hanoi Medical University · VN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Charcot-Marie-Tooth disease (CMT) is among the most common group of inherited neuromuscular diseases. Case Description: We report two patients presenting with sensorimotor neuropathy without cerebellar ataxia, spasticity and other neurological features, being diagnosed with intermediate form CMT by electrophysiological and clinical examination and neuroimaging. By whole-exome sequencing panel of two affected members, and PCR Sanger on Conclusion: We concluded that this novel

Indexed as

Autosomal recessive spastic ataxia of Charlevoix-SaguenayIntermediate Charcot-Marie-Tooth diseaseNEFHNovel variantSACS

Identifiers

PMID36600740
PMCPMC9805609
OpenAlexW4310044542

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.