Evidence map›Paper›PMID 33898742›Full record

ArticleNeurology. Genetics2021

Novel Cysteine-Sparing Hypomorphic

Snjolaug Arnardottir, Francesca Del Gaudio, Stefanos Klironomos, Eike-Benjamin Braune, Ariane Araujo Lombraña, Daniel V Oliveira, Shaobo Jin, Helena Karlström, Urban Lendahl, Christina Sjöstrand

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

Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 35% 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, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Observational
  3. Article
  4. Review
  5. Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022
    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 at 1 institution in 1 country.

Snjolaug ArnardottirDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Francesca Del GaudioDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Stefanos KlironomosDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Eike-Benjamin BrauneDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Ariane Araujo LombrañaDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Daniel V OliveiraDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-0622-2934
Shaobo JinDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Helena KarlströmDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Urban LendahlDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Christina SjöstrandDivision of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Karolinska Institutet · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo conduct a clinical study of a family with neurologic symptoms and findings carrying a novel

methodsWe analyzed a family with complex neurologic symptoms by MRI and neurologic examinations. Exome sequencing of the

resultsCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease (SVD) and caused by mutations in the

conclusionsWe identify a family with migraine and WML in which some members carry a cysteine-sparing hypomorphic

Identifiers

PMID33898742
PMCPMC8063633
OpenAlexW3156560261

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.