Evidence map›Paper›PMID 33972714›Full record

ArticleEuropean journal of human genetics : EJHG2021

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, Solve-RD-DITF-RND, Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot and 7 more

Erratum issuedAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Solving the unsolved rare diseases in Europe.European journal of human genetics : EJHG · 2021
    Article
  12. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Rebecca SchüleHertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany. rebecca.schuele-freyer@uni-tuebingen.de.
Dagmar TimmannDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.
Corrie E ErasmusDepartment of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
Jennifer ReichbauerHertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.
Melanie WayandHertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.
Solve-RD-DITF-RND
Bart van de WarrenburgEuropean Reference Network for Rare Neurological Diseases, Tübingen, Germany.
Ludger SchölsHertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.
Carlo WilkeHertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-7250-8597
Andrea BevotDepartment of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Sergi BeltranCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0002-2810-3445
Steven LaurieCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID 0000-0003-3913-5829
Leslie MatalongaCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Holm Graessner *European Reference Network for Rare Neurological Diseases, Tübingen, Germany.ORCID 0000-0001-9803-7183
Matthis Synofzik *Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-2280-7273
Solve-RD Consortium

Funding

GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2M
Medical Research Council G1000848Medical Research Council MR/M006824/1Medical Research Council MR/N010035/1Medical Research Council MR/N025431/1Medical Research Council MR/N025431/2Medical Research Council MR/V009346/1NINDS NIH HHS R01 NS072248
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Datasets as TopicExome SequencingGenetic TestingGenomicsHumansNervous System DiseasesPractice Guidelines as TopicRare Diseases

Identifiers

PMID33972714
PMCPMC8440537

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.