Evidence map›Paper›PMID 29057844›Full record

ReviewGenes2017

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Eva Hebert, Friederike Borngräber, Alexander Schmidt, Aleksandar Rakovic, Ingrid Brænne, Anne Weissbach, Jennie Hampf, Eva-Juliane Vollstedt, Leopold Größer, Susen Schaake and 14 more

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 42% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
  2. 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

24 authors at 11 institutions in 5 countries.

Eva HebertInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. eva.hebert@neuro.uni-luebeck.de.
Friederike BorngräberInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. friederike.borngraeber@neuro.uni-luebeck.de.
Alexander SchmidtInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. alexander.schmidt@charite.de.
Aleksandar RakovicInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. aleksandar.rakovic@neuro.uni-luebeck.de.
Ingrid BrænneInstitute for Integrative and Experimental Genomics, University of Luebeck, 23538 Luebeck, Germany. imb9y@eservices.virginia.edu.
Anne WeissbachInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. anne.weissbach@neuro.uni-luebeck.de.
Jennie HampfInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. jennie.hampf@neuro.uni-luebeck.de.
Eva-Juliane VollstedtInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. jule.vollstedt@neuro.uni-luebeck.de.
Leopold GrößerDepartment of Dermatology, University of Regensburg, 93053 Regensburg, Germany. Leopold.Groesser@klinik.uni-regensburg.de.
Susen SchaakeInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. susen.schaake@neuro.uni-luebeck.de.
Michaela MüllerInstitute for Integrative and Experimental Genomics, University of Luebeck, 23538 Luebeck, Germany. michaela.mueller@iieg.uni-luebeck.de.
Humera ManzoorInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. humi_902@yahoo.com.
Hans-Christian JabuschInstitute of Musician's Medicine, University of Music, 01069 Dresden, Germany. Hans-Christian.Jabusch@hfmdd.de.
Daniel Alvarez-FischerInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. daniel.alvarez@neuro.uni-luebeck.de.
Meike KastenInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. meike.kasten@neuro.uni-luebeck.de.
Vladimir S KosticDepartment of Neurodegenerative Diseases, Clinical Center of Serbia, 11000 Belgrade, Serbia. vladimir.s.kostic@gmail.com.
Thomas GasserDepartment of Neurology, University of Tübingen, 72076 Tubingen, Germany. thomas.gasser@uni-tuebingen.de.
Kirsten E ZeunerDepartment of Neurology, University of Kiel, 24105 Kiel, Germany. k.zeuner@neurologie.uni-kiel.de.
Han-Joon KimDepartment of Neurology, Movement Disorder Center, Seoul National University Hospital, Seoul 03080, Korea. cupofcoffee@daum.net.
Beomseok JeonDepartment of Neurology, Movement Disorder Center, Seoul National University Hospital, Seoul 03080, Korea. brain@snu.ac.kr.
Peter BauerCentogene AG, 18057 Rostock, Germany. peter.bauer@centogene.com.
Eckart AltenmüllerInstitute of Music Physiology and Musician's Medicine, Hanover University of Music, Drama and Media, 30175 Hanover, Germany. eckart.altenmueller@hmtm-hannover.de.
Christine KleinInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. christine.klein@neuro.uni-luebeck.de.
Katja LohmannInstitute of Neurogenetics, University of Luebeck, 23538 Luebeck, Germany. katja.lohmann@neuro.uni-luebeck.de.
University of Lübeck · DEHanns Eisler College or Academy of Music · DESeoul National University Hospital · KRCentar za Promociju Nauke · RSCentogene (Germany) · DEChristian-Albrechts-Universität zu Kiel · DEHanover University of Music Drama and Media · DEInstitute for Integrative and Experimental Genomics · DEInstitute of Musicology of the Slovak Academy of Sciences · SKUniversity of Regensburg · DEUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician's dystonia (MD) and writer's dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val) in

Indexed as

GTPaselysosomal degradationmusician’s dystoniaRAB12Transferrin receptor

Identifiers

PMID29057844
PMCPMC5664126
OpenAlexW2766635938

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.