Evidence map›Paper›PMID 30656193›Full record

ArticleAnnals of clinical and translational neurology2019

Novel pathogenic

Maria G Otero, Emmanuelle Tiongson, Frank Diaz, Katrina Haude, Karin Panzer, Ashley Collier, Jaemin Kim, David Adams, Cynthia J Tifft, Hong Cui and 11 more

Open access · goldAbstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
0.8field-weighted citation impact, top 27% 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

16 citing papers in PubMed, 26 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Review
  9. Review
  10. Compound HeterozygousFrontiers in neurology · 2022
    Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Dysarthria, Ataxia, and Dystonia Associated withAnnals of Indian Academy of Neurology
    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

21 authors at 8 institutions in 3 countries.

Maria G OteroBoard of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.
Emmanuelle TiongsonDivision of Neurology Children's Hospital of Los Angeles Los Angeles California.
Frank DiazDepartment of Neurology Cedars-Sinai Medical Center Los Angeles California.
Katrina HaudeGeneDx Gaithersburg Maryland.
Karin PanzerDepartment of Pediatrics University of Iowa Stead Family Children's Hospital Iowa City Iowa.
Ashley CollierProvincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada.
Jaemin KimBoard of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.
David AdamsNIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.
Cynthia J TifftNIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.
Hong CuiGeneDx Gaithersburg Maryland.
Francisca Millian ZamoraGeneDx Gaithersburg Maryland.
Margaret G AuDepartment of Pediatrics Cedars-Sinai Medical Center Los Angeles California.
John M GrahamDepartment of Pediatrics Cedars-Sinai Medical Center Los Angeles California.
David J BuckleyDepartment of Pediatrics Janeway Health Centre St. John's Newfoundland and Labrador Canada.
Richard LewisDepartment of Neurology Cedars-Sinai Medical Center Los Angeles California.
Camilo ToroNIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.
Renkui BaiGeneDx Gaithersburg Maryland.
Lesley TurnerFaculty of Medicine Memorial University of Newfoundland St. John's Newfoundland Canada.
Katherine D MathewsProvincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada.
William GahlNIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.
Tyler Mark PiersonBoard of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.
Cedars-Sinai Medical Center · USOffice of the Director · USUniversity of Iowa Stead Family Children’s Hospital · USChildren's Hospital of Los Angeles · USJaneway Children's Health and Rehabilitation Centre · CAMemorial University of Newfoundland · CANational Human Genome Research Institute · USRegenerative Medicine Institute · MX

Funding

NHGRI/DIR Clinical Support ServicesZIDHG200352 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOLOMON, BENJAMIN · 2009 to 2025
$182.8M
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Therapeutic Potential of ESC-Derived Myogenic PrecursorsU54NS053672 · NINDS · UNIVERSITY OF IOWA · PI CAMPBELL, KEVIN P. · 2005 to 2019
$22.0M
Clinical Pursuits by the NHGRI Office of the Clinical DirectorZIAHG200402 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2019 to 2019
$122k
NINDS NIH HHS U54 NS053672
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AdolescentAdultAtaxiaChildDysarthriaElectron Transport Complex IVFemaleHereditary Sensory and Autonomic NeuropathiesHumansMalePedigreePhenotypeCOX20 protein, humanElectron Transport Complex IV

Identifiers

PMID30656193
PMCPMC6331954
OpenAlexW2900264138

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.