ArticleNeurology. Genetics2023
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2023. 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
0.2field-weighted citation impact, top 44% of its field
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.
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.
Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.Molecular and cellular pediatrics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 1 institution in 3 countries.
Nomakhosazana R MonnakgotlaFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0003-0763-7154
Amokelani C MahunguFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0002-4422-0625
Jeannine M HeckmannFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0002-8999-718X
Gerrit BothaFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0001-7499-3760
Nicola J MulderFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0003-4905-0941
Gang WuFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0002-1678-5864
Evadnie RampersaudFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0001-5195-5366
Jason MyersFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.
Marka Van BlitterswijkFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.
Rosa RademakersFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.ORCID https://orcid.org/0000-0002-4049-0863
J Paul TaylorFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.
Joanne WuuFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.
Michael BenatarFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.
Melissa NelFrom the Neurology Research Group (N.R.M., A.C.M., J.M.H., M.N.), Division of Neurology, Department of Medicine; Neuroscience Institute (N.R.M., A.C.M., J.M.H., M.N.); Computational Biology Division (G.B., N.J.M.), Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa; Center for Applied Bioinformatics (G.W., E.R., J.M.), St. Jude Children's Research Hospital, Memphis, TN; Department of Neuroscience (M.V.B.), Mayo Clinic, Jacksonville, FL; Center for Molecular Neurology (R.R.), University of Antwerp, Belgium; Department of Cell and Molecular Biology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (J.W., M.B.), University of Miami, FL.
St. Jude Children's Research Hospital · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Amyotrophic lateral sclerosis (ALS) is a degenerative condition of the brain and spinal cord in which protein-coding variants in known ALS disease genes explain a minority of sporadic cases. There is a growing interest in the role of noncoding structural variants (SVs) as ALS risk variants or genetic modifiers of ALS phenotype. In small European samples, specific short SV alleles in noncoding regulatory regions of Methods: Using short-read whole genome sequencing (WGS) data, we investigated putative ALS-susceptibility Results: There was no association with previously reported Discussion: We did not replicate the reported association of
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.