Evidence map›Paper›PMID 29167286›Full record

ArticleCold Spring Harbor molecular case studies2018

A novel

Jacqueline G Lu, Juliet Bishop, Sarah Cheyette, Igor B Zhulin, Su Guo, Nara Sobreira, Steven E Brenner

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2018. 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
–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

5 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
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  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

7 authors at 4 institutions in 1 country.

Jacqueline G LuDepartment of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California 94143, USA.
Juliet BishopMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, Maryland 21205, USA.
Sarah CheyettePalo Alto Medical Foundation, Palo Alto, California 94306, USA.
Igor B ZhulinComputational Sciences and Engineering Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831, USA.
Su GuoDepartment of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California 94143, USA.
Nara SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, Maryland 21205, USA.
Steven E BrennerDepartment of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California 94143, USA.
University of California, San Francisco · USJohns Hopkins Medicine · USPalo Alto Institute · USUniversity of Tennessee at Knoxville · US

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6M
Postdoctoral Medical Genetics Training GrantT32GM007471 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI TAO WANG · 1985 to 2026
$8.0M
Computational Genomics of Signal TransductionR01GM072285 · NIGMS · UNIVERSITY OF TENNESSEE KNOXVILLE · PI JOULINE, IGOR B. · 2004 to 2018
$3.2M
Newborn Screening for T-Cell Disorders: Spectrum and OutcomesR01AI105776 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BRENNER, STEVEN E, CHURCH, JOSEPH · 2013 to 2016
$2.4M
Asymmetric Cell Division in Vertebrate Brain DevelopmentR01NS095734 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GUO, SU · 2015 to 2019
$1.7M
Component 2 - Resource ProjectU41HG007346 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI BRENNER, STEVEN E · 2015 to 2017
$1.7M
NHGRI NIH HHS U41 HG007346NHGRI NIH HHS U54 HG006542NIAID NIH HHS R01 AI105776NIGMS NIH HHS R01 GM072285NIGMS NIH HHS T32 GM007471NINDS NIH HHS R01 NS095734
6 · The paper itself

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic variants in

Indexed as

Amino Acid SequenceBase SequenceChildChromosome SegregationConserved SequenceDystoniaEpilepsy, Benign NeonatalEvolution, MolecularFamilyFemaleHumansInfantInheritance PatternsMaleMembrane ProteinsMutationMembrane ProteinsNerve Tissue ProteinsPRRT2 protein, humanataxiaautismextrapyramidal dyskinesiafocal autonomic seizures without altered responsivenessinfantile spasmsintellectual disability, profoundmigraine without auraparoxysmal dyskinesia

Identifiers

PMID29167286
PMCPMC5793775
OpenAlexW2770612936

What Socratic holds

Textmetadata
LicenceCC BY-NC
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 Socratic graph.