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Record W3119466146 · doi:10.1212/wnl.0000000000011464

Novel Associations of <i>BST1</i> and <i>LAMP3</i> With REM Sleep Behavior Disorder

2021· article· en· W3119466146 on OpenAlexfundno aff
Kheireddin Mufti, Eric Yu, Uladzislau Rudakou, Lynne Krohn, Jennifer A. Ruskey, Farnaz Asayesh, Sandra B. Laurent, Dan Spiegelman, Isabelle Arnulf, Jacques Montplaisir, Jean‐François Gagnon, Alex Désautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Evi Holzknecht, Karel Šonka, David Kemlink, Wolfgang H. Oertel, Annette Janzen, Giuseppe Plazzi, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel‐Döring, Valérie Cochen De Cock, Christelle Monaca, Anna Heidbreder, Luigi Ferini‐Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, Jean‐François Trempe, Guy A. Rouleau, Ronald B. Postuma, Ziv Gan‐Or

Bibliographic record

VenueNeurology · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsnot available
FundersNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBritannia PharmaceuticalsIdorsia PharmaceuticalsDeutsche Parkinson VereinigungH. Lundbeck A/STau ConsortiumConsortium canadien en neurodégénérescence associée au vieillissementCanada First Research Excellence FundParkinson CanadaAgence Nationale de la RechercheMcGill UniversityDeutsche ForschungsgemeinschaftUCB PharmaBoston Scientific CorporationMichael J. Fox Foundation for Parkinson's ResearchLittle Family FoundationMayo ClinicBiogenEisaiUniversity of OxfordParkinson's UKCanadian Institutes of Health ResearchJazz PharmaceuticalsNational Institute for Health and Care ResearchTeva Pharmaceutical IndustriesEli Lilly and CompanySun PharmaW. Garfield Weston Foundation
KeywordsREM sleep behavior disorderSleep (system call)PsychologyNeuroscienceMedicinePolysomnographyElectroencephalographyComputer science

Abstract

fetched live from OpenAlex

OBJECTIVE: To examine the role of genes identified through genome-wide association studies (GWASs) of Parkinson disease (PD) in the risk of isolated REM sleep behavior disorder (iRBD). METHODS: variants on the protein structure, we performed in silico structural analysis. Finally, we examined the association of common variants using logistic regression adjusted for age and sex. RESULTS: = 0.0006 at >30×). We found no association between rare heterozygous variants in the rest of genes and iRBD. Several carriers of biallelic variants were identified, yet there was no overrepresentation in iRBD. CONCLUSION: could be a therapeutic target.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.798
Threshold uncertainty score0.430

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.217
Teacher spread0.209 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations18
Published2021
Admission routes1
Has abstractyes

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