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Record W4407317759 · doi:10.1038/s41591-025-03494-0

Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia

2025· article· en· W4407317759 on OpenAlexaff
Jorge J. Llibre‐Guerra, María Victoria Fernández, Nelly Joseph‐Mathurin, Shijia Bian, Kathleen Carter, Yan Li, Andrew J. Aschenbrenner, Cyril Pottier, Wendy Sigurdson, Eric McDade, Brian A. Gordon, Alan E. Renton, Tammie L.S. Benzinger, Laura Ibáñez, Nicole Barthélémy, Matthew P. Johnson, Jason Hassenstab, Guoqiao Wang, Alison Goate, Daniel Western, Ciyang Wang, Diana A. Hobbs, Alisha Daniels, Celeste M. Karch, John C. Morris, Carlos Cruchaga, Erik C. B. Johnson, Randall J. Bateman, David Aguillón, Ricardo Allegri, Ana Baena, Bryce Baker, Jessica Banks, Nicolas R. Barthélemy, Jamie Bartzel, Jacob Bechara, Sarah Berman, Yamile Bocanegra, William S. Brooks, David M. Cash, Allison Chen, Charles Chen, Jasmeer P. Chhatwal, Patricio Chrem Méndez, Laura Courtney, Gregory S. Day, Emma Devenney, Anne M. Fagan, Martin R. Farlow, Shaney Flores, Nick C. Fox, Erin Franklin, Brian Fulton‐Howard, Manu S. Goyal, Susanne Gräber‐Sultan, Neill R. Graff‐Radford, Emily Gremminger, Cortaiga Hellm, David M. Holtzman, Russ C. Hornbeck, Edward D. Huey, Takeshi Ikeuchi, Snežana Ikonomović, Takanobu Ishiguro, Kenji Ishii, Kelley Jackson, Gina Jerome, Mathias Jucker, Kensaku Kasuga, Sarah Keefe, Deborah Koudelis, Elke Kuder-Buletta, Christian la Fougère, Christoph Laske, Jae Hong Lee, Allan I. Levey, Johannes Levin, Yudy Milena Leon, Francisco Lopera, Ruijin Lu, Courtney Maa, Jacob Marsh, Mariana Martin, Ralph N. Martins, Parinaz Massoumzadeh, Colin L. Masters, Austin McCullough, Nicole S. McKay, Matthew Minton, Hiroshi Mori, Joyce Nicklaus, Yu-zheng Nie, Yoshiki Niimi, James M. Noble, Ulrike Obermueller, Richard J. Perrin, Danielle M. Picarello, Christine Pulizos, Laura Ramírez, Gerald Reischl, John M. Ringman, Jacqueline Rizzo, Yvonne Rödenbeck, Jee Hoon Roh, Pedro Rosa‐Neto, Natalie S. Ryan, Edita Sabaredzovic, Stephen Salloway, Raquel Sánchez‐Valle, Peter R. Schofield, Jalen Scott, Michio Senda, Laura Serna, Nicholas T. Seyfried, Ashlee Simmons, Karina Skrbec, Jennifer S. Smith, Jennifer L. Stauber, Sarah H. Stout, Charlene Supnet, Ezequiel Surace, Reda Timofejavaite, Silvia Vázquez, Andrei G. Vlassenko, Jonathan Vöglein, Qing Wang, Yong Wang, Chengjie Xiong, Xu Xiong, Jinbin Xu, Angela Ziegemeier, Ellen Ziegemeier

Bibliographic record

VenueNature Medicine · 2025
Typearticle
Languageen
FieldMedicine
TopicAlzheimer's disease research and treatments
Canadian institutionsMcGill University
FundersNational Institute on Aging
KeywordsDementiaAlzheimer's diseaseDiseaseMutationGerontologyMedicineGeneticsPsychologyBiologyInternal medicineGene

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.019
Threshold uncertainty score0.038

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0030.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

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 head0.019
GPT teacher head0.346
Teacher spread0.328 · 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 source (direct Gemma or distilled Codex), 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

Citations22
Published2025
Admission routes1
Has abstractno

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