Evidence map›Paper›PMID 33209984›Full record

ArticleNeurology. Genetics2020

Heterozygous variants in

Sebastian Thams, Mominul Islam, Marie Lindefeldt, Ann Nordgren, Tobias Granberg, Bianca Tesi, Gisela Barbany, Daniel Nilsson, Martin Paucar

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

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.3field-weighted citation impact, top 39% 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, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Report of a Novel Homozygous IntragenicMolecular syndromology · 2024
    Article
  4. Article
  5. Review
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

9 authors at 1 institution in 2 countries.

Sebastian ThamsDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Mominul IslamDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Marie LindefeldtDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Ann NordgrenDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Tobias GranbergDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Bianca TesiDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Gisela BarbanyDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Daniel NilssonDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.
Martin PaucarDepartment of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0003-3735-1480
Karolinska University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo perform a comprehensive characterization of a cohort of patients with congenital mirror movements (CMMs) in Sweden.

methodsClinical examination with the Woods and Teuber scale for mirror movements (MMs), neuroimaging, navigated transcranial magnetic stimulation (nTMS), and massive parallel sequencing (MPS) were applied.

resultsThe cohort is ethnically diverse and includes a total of 7 patients distributed in 2 families and 2 sporadic cases. The degree of MMs was variable in this cohort. MPS revealed 2 novel heterozygous frameshift variants in DCC netrin 1 receptor (

conclusionsThe presence of chorea expands the clinical spectrum of syndromes associated with variants in

Identifiers

PMID33209984
PMCPMC7670573
OpenAlexW3093490941

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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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.