Evidence map›Paper›PMID 39055961›Full record

ArticleNeurology. Genetics2024

Clinicopathologic Characterization of 2 Individuals With

Kimiko Domoto-Reilly, B Jane Distad, Danny E Miller, Yi-Han Lin, David Ivanick, Andrew S Warren, Suman Jayadev, Caitlin S Latimer

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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Kimiko Domoto-ReillyFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.ORCID https://orcid.org/0000-0002-7396-1633
B Jane DistadFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.
Danny E MillerFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.ORCID https://orcid.org/0000-0001-6096-8601
Yi-Han LinFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.
David IvanickFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.
Andrew S WarrenFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.
Suman JayadevFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.ORCID https://orcid.org/0000-0003-3164-9665
Caitlin S LatimerFrom the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.ORCID https://orcid.org/0000-0003-3727-4278

Funding

University of Washington Alzheimer's Disease Research CenterP30AG066509 · NIA · UNIVERSITY OF WASHINGTON · PI SUMAN JAYADEV · 2020 to 2026
$29.0M
NIA NIH HHS P30 AG066509
6 · The paper itself

Abstract

Objectives: Here, we report detailed clinicopathologic evaluation of 2 individuals with pathogenic variants in Methods: Two individuals with pathogenic variants in Results: Multiple affected individuals within a single family were found to carry a previously unreported c.358+3A>G variant, predicted to alter splicing. Detailed histopathologic evaluation of our 2 Discussion: Although all pathogenic

Identifiers

PMID39055961
PMCPMC11270891

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.