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NPC1 variants are not associated with Parkinson’s disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts

2023· article· en· W4323349730 on OpenAlexafffund
Emma N. Somerville, Lynne Krohn, Eric Yu, Uladzislau Rudakou, Konstantin Senkevich, Jennifer A. Ruskey, Farnaz Asayesh, Jamil Ahmad, Dan Spiegelman, Yves Dauvilliers, Isabelle Arnulf, Jacques Montplaisir, Jean‐François Gagnon, Alex Désautels, Abubaker Ibrahim, Ambra Stefani, Birgit Högl, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Petr Dušek, Karel Šonka, David Kemlink, Giuseppe Plazzi, Elena Antelmi, Francesco Biscarini, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel‐Döring, Michela Figorilli, Monica Puligheddu, Valérie Cochen De Cock, Wolfgang H. Oertel, Annette Janzen, Luigi Ferini‐Strambi, Anna Heibreder, Christelle Monaca, Beatriz Abril, Femke Dijkstra, Mineke Viaene, Bradley F. Boeve, Ronald B. Postuma, Guy A. Rouleau, Ziv Gan‐Or

Bibliographic record

VenueNeurobiology of Aging · 2023
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsUniversité du Québec à MontréalUniversité de MontréalHôpital du Sacré-Cœur de MontréalMcGill UniversityCanadian Sleep & Circadian NetworkMontreal Neurological Institute and Hospital
FundersCanadian Institutes of Health ResearchParkinson's UK
KeywordsSynucleinopathiesDementia with Lewy bodiesDementiaAlpha-synucleinNPC1Parkinson's diseaseREM sleep behavior disorderDiseaseMedicineBiologyPathologyGeneticsReceptor

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.710

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
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 head0.030
GPT teacher head0.282
Teacher spread0.252 · 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

Citations8
Published2023
Admission routes2
Has abstractno

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