In one paragraphArticle in medRxiv : the preprint server for health sciences, 2024. 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed, 3 citations in OpenAlex.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
37 authors at 13 institutions in 8 countries.
Emil K GustavssonDepartment of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.ORCID 0000-0003-0541-7537 Jordan FollettMcKnight Brain Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA.ORCID 0000-0003-4315-0482 Joanne TrinhInstitute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, Lübeck 23538, Germany.ORCID 0000-0001-9863-2070 Sandeep K BarodiaDepartment of Neurology, Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID 0000-0003-3517-162X Raquel RealDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0001-8117-742X Zhiyong LiuDepartment of Neurology, Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID 0000-0002-2959-5189 Melissa Grant-PetersDepartment of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.ORCID 0000-0003-0585-0971 Silke Appel-CresswellPacific Parkinson's Research Centre, Djavad Mowafaghian Centre for Brain Health, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0002-5986-1468 A Jon StoesslPacific Parkinson's Research Centre, Djavad Mowafaghian Centre for Brain Health, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0002-9778-7246 Alex RajputMovement Disorders Program, Division of Neurology, University of Saskatchewan and Saskatchewan Health Authority, Saskatoon, SK, Canada.ORCID 0000-0001-9656-318X Ali H RajputMovement Disorders Program, Division of Neurology, University of Saskatchewan and Saskatchewan Health Authority, Saskatoon, SK, Canada.
Roland AuerDepartment of Pathology, University of Saskatchewan and Saskatchewan Health Authority, Saskatoon, SK, Canada.ORCID 0000-0001-9044-3419 Russel TilneyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0003-3498-6990 Suzanne LesageSorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.ORCID 0000-0003-4158-2601 Christelle TessonSorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.ORCID 0000-0001-7589-3710 Alexis BriceSorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.ORCID 0000-0002-0941-3990 Carles Vilariño-GüellDepartment of Medical Genetics, University of British Columbia, Vancouver V6T 1Z3, Canada.
Mina RytenDepartment of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.ORCID 0000-0001-9520-6957 Matthew S GoldbergDepartment of Neurology, Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID 0000-0002-5172-9841 Andrew B WestDuke Center for Neurodegeneration and Neurotherapeutics, Department of Pharmacology and Cancer Biology, Duke University, 3 Genome Court, Durham 27710, North Carolina, USA.ORCID 0000-0002-3034-4061 Michele T HuDivision of Neurology, Nuffield Department of Clinical Neurosciences, University of Oxford, UK.ORCID 0000-0001-6382-5841 Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0002-5473-3774 Manu SharmaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Germany.
Bedia SamanciBehavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.ORCID 0000-0003-0667-2329 Pawel LisMRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.ORCID 0000-0002-4978-7671 Samia Ben SassiService de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia.ORCID 0000-0002-1002-5979 Faycel HentatiService de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia.
Global Parkinson’s Genetics Program (GP2)
Francesca TonelliMRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.ORCID 0000-0002-4600-6630 Dario R AlessiMRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.ORCID 0000-0002-2140-9185 Matthew J FarrerMcKnight Brain Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA.ORCID 0000-0003-1159-5321 University of British Columbia · CAUniversity of Dundee · GBCentre National de la Recherche Scientifique · FRInstitut National de Santé Publique · TNNational Hospital for Neurology and Neurosurgery · GBSaskatchewan Health Authority · CAUniversity of Alabama at Birmingham · USUniversity of Tübingen · DEMontreal Neurological Institute and Hospital · CADuke University · USGreat Ormond Street Hospital · GBQueen Mary University of London · GBUniversity of Oxford · GB
Funding
Genetics and Molecular Biology of ParkinsonismP50NS040256 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2004 to 2009
$8.9MGenotype/Phenotype Studies of Parkinson's Disease in TunisiaR21NS064885 · NINDS · MAYO CLINIC JACKSONVILLE · PI FARRER, MATTHEW J, HENTATI, FAYCAL · 2009 to 2009
$153kMedical Research Council G0700943Medical Research Council G1100643Medical Research Council MR/T018569/1NINDS NIH HHS P50 NS040256NINDS NIH HHS R21 NS064885Parkinson's UK K-1501Wellcome Trust
6 · The paper itselfAbstract
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with a notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as a subset are both regulators and substrates of LRRK2 protein kinase. To explore the role of RAB GTPases in PD, we undertook a comprehensive examination of their genetic variability in familial PD. Methods: Affected probands from 130 multi-incident PD families underwent whole-exome sequencing and genotyping, Potential pathogenic variants in 61 RAB GTPases were genotyped in relatives to assess disease segregation. These variants were also genotyped in a larger case-control series, totaling 3,078 individuals (2,734 with PD). The single most significant finding was subsequently validated within genetic data (6,043 with PD). Clinical and pathologic findings were summarized for gene-identified patients, and haplotypes were constructed. In parallel, wild-type and mutant RAB GTPase structural variation, protein interactions, and resultant enzyme activities were assessed. Findings: We found Interpretation: Our study provides unequivocal evidence to implicate RAB32 Ser71Arg in PD. Functional analysis demonstrates LRRK2 kinase activation. We provide a mechanistic explanation to expand and unify the etiopathogenesis of monogenic PD. Funding: National Institutes of Health, the Canada Excellence Research Chairs program, Aligning Science Across Parkinson's, the Michael J. Fox Foundation for Parkinson's Research, and the UK Medical Research Council.
Indexed as
LRRK2Parkinson’s diseasePINK1RAB32
Identifiers
PMID38293014
PMCPMC10827257
OpenAlexW4390965189
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390