Evidence map›Paper›PMID 35243002›Full record

ArticleNeurology. Genetics2022

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of

Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
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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

8 authors.

Lea LeonardisInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.
Marusa Skrjanec PusenjakInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.
Ales MaverInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.
Helena JaklicInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.
Ana Ozura BreckoInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.
Blaz KoritnikInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.ORCID https://orcid.org/0000-0002-5083-8261
Borut PeterlinInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.
Karin WritzlInstitute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (A.M., K.W.), University of Ljubljana; and Division of Neurology (A.O.B.), University Medical Centre Ljubljana, Slovenia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesTo expand the phenotype and genotype associated with

methodsExome sequencing data from a patient with molecularly undiagnosed complex spastic paraplegia and axonal motor and sensory polyneuropathy were analyzed. Clinical data and nerve conduction studies of the patient and his affected brother were collected, and their phenotype and genotype were compared with previously reported patients with

resultsA novel homozygous missense variant in DISCUSSION: This family with a novel

Identifiers

PMID35243002
PMCPMC8889895

What Socratic holds

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LicenceCC BY-NC-ND
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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 Socratic graph.