Evidence map›Paper›PMID 34573312›Full record

ArticleGenes2021

Four New Cases of Hypomyelinating Leukodystrophy Associated with the

Zsuzsanna Szűcs, Réka Fitala, Ágnes Renáta Nyuzó, Krisztina Fodor, Éva Czemmel, Nóra Vrancsik, Mónika Bessenyei, Tamás Szabó, Katalin Szakszon, István Balogh

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

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

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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 at 2 institutions in 1 country.

Zsuzsanna SzűcsDivision of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.ORCID 0000-0003-2836-3383
Réka FitalaVelkey László Child Health Center, Borsod-Abaúj-Zemplén County Central Regional Hospital and University Educational Center, 3526 Miskolc, Hungary.
Ágnes Renáta NyuzóVelkey László Child Health Center, Borsod-Abaúj-Zemplén County Central Regional Hospital and University Educational Center, 3526 Miskolc, Hungary.
Krisztina FodorVelkey László Child Health Center, Borsod-Abaúj-Zemplén County Central Regional Hospital and University Educational Center, 3526 Miskolc, Hungary.
Éva CzemmelNeurodevelopmental Ward, St. Margaret Hospital, 1032 Budapest, Hungary.ORCID 0000-0003-3697-183X
Nóra VrancsikDivision of Radiology, Department of Medical Imaging, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
Mónika BessenyeiInstitute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
Tamás SzabóInstitute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
Katalin SzakszonInstitute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
István BaloghDivision of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.ORCID 0000-0003-3397-2829
University of Debrecen · HUBuda Health Center · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ufmylation is a relatively newly discovered type of post-translational modification when the ubiquitin-fold modifier 1 (UFM1) protein is covalently attached to its target proteins in a three-step enzymatic reaction involving an E1 activating enzyme (UBA5), E2 conjugating enzyme (UFC1), and E3 ligase enzyme (UFL1). The process of ufmylation is essential for normal brain development and function in humans. Mutations in the

Indexed as

Hereditary Central Nervous System Demyelinating DiseasesRomani PeopleUbiquitin-Protein LigasesChildChild, PreschoolFemaleFounder EffectHumansHungaryInfantMaleMutationProteinsProteinsUbiquitin-Protein LigasesUFM1 protein, humanHypomyelinating leukodystrophy type 14NGSRoma founder mutationUFM1ufmylation

Identifiers

PMID34573312
PMCPMC8471165
OpenAlexW3198416868

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.