Evidence map›Paper›PMID 36993451›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Association of rare variants in

Konstantin Senkevich, Mariia Beletskaia, Aliza Dworkind, Eric Yu, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters and 14 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 10 institutions in 5 countries.

Konstantin SenkevichThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Mariia BeletskaiaFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Aliza DworkindDepartment of Physiology, McGill University, Montréal, QC, Canada.
Eric YuThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Jamil AhmadThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Jennifer A RuskeyThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Farnaz AsayeshThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Dan SpiegelmanThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Stanley FahnDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, NY, USA.
Cheryl WatersDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, NY, USA.
Oury MonchiDepartment of Neurology and neurosurgery, McGill University, Montréal, QC, Canada, Canada.
Yves DauvilliersNational Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Guide-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
Nicolas DupréDivision of Neurosciences, CHU de Québec, Université Laval, Quebec City, Quebec, Canada.
Lior GreenbaumThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Sharon Hassin-BaerSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ilya NagornovResearch Centre for Medical Genetics, Moscow, Russia.
Alexandr TyurinFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Irina MiliukhinaInstitute of the Human Brain of RAS, St. Petersburg, Russia.
Alla TimofeevaFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Anton EmelyanovFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Ekaterina ZakharovaResearch Centre for Medical Genetics, Moscow, Russia.
Roy N AlcalayDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, NY, USA.
Sofya PchelinaFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Ziv Gan-OrThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Montreal Neurological Institute and Hospital · CAFirst Pavlov State Medical University of St. Petersburg · RUColumbia University Irving Medical Center · USResearch Centre for Medical Genetics · RUTel Aviv University · ILInstitute of the Human Brain · RUMcGill University · CAUniversité de Montpellier · FRUniversité Laval · CAUniversity of Calgary · CA

Funding

Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
NCATS NIH HHS UL1 TR000040NINDS NIH HHS K02 NS080915
6 · The paper itself

Abstract

Background: Several lysosomal genes are associated with Parkinson's disease (PD), yet the association between PD and Objectives: To evaluate the association between rare Methods: To study possible association of rare variants (minor allele frequency<0.01) in Results: We found evidence for an association between functional Conclusions: Rare functional and loss-of-function

Identifiers

PMID36993451
PMCPMC10055435
OpenAlexW4324145746

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.