Evidence map›Paper›PMID 38685974›Full record

ArticleNeurology. Genetics2024

Two Novel Variants in

Jevin M Parmar, Elyshia L McNamara, Phillipa J Lamont, Kishore R Kumar, Audrey Rick, Marion Stoll, Pak Leng Cheong, Gianina Ravenscroft

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. 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

8 authors.

Jevin M ParmarFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.ORCID https://orcid.org/0000-0003-1864-8094
Elyshia L McNamaraFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.
Phillipa J LamontFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.
Kishore R KumarFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.ORCID https://orcid.org/0000-0003-3482-6962
Audrey RickFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.ORCID https://orcid.org/0009-0004-3832-8471
Marion StollFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.ORCID https://orcid.org/0009-0007-2971-388X
Pak Leng CheongFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.ORCID https://orcid.org/0000-0002-0095-4459
Gianina RavenscroftFrom the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.ORCID https://orcid.org/0000-0003-3634-211X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To report novel biallelic Methods: Two affected sisters presented with unsolved hereditary spastic paraparesis and underwent clinical and imaging assessments. This was followed by short-read next-generation sequencing. Results: Analysis of next-generation sequencing data uncovered compound heterozygous variants in Discussion: Here, next-generation sequencing revealed 2 novel compound heterozygous variants in the phosphatidylinositol 4-kinase alpha gene (

Identifiers

PMID38685974
PMCPMC11057436

What OpenQuestion holds

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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.