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Record W2974694770

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

2018· article· en· W2974694770 on OpenAlexaffabout
Cyril Pottier, Xiaolai Zhou, Ralph B. Perkerson, Matt Baker, Gregory D. Jenkins, Daniel Serie, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Adolfo López de Munaín, Miren Zulaica, Fermín Moreno, Isabelle Le Ber, Florence Pasquier, Didier Hannequin, Raquel Sánchez‐Valle, Anna Antonell, Albert Lladó, Tammee M. Parsons, NiCole A. Finch, Elizabeth Finger, Carol F. Lippa, Edward D. Huey, Manuela Neumann, Peter Heutink, Matthis Synofzik, Carlo Wilke, Robert A. Rissman, Jarosław Sławek, Emilia J. Sitek, Peter Johannsen, Jørgen E. Nielsen, Yingxue Ren, Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Elizabeth Christopher, Melissa E. Murray, Kevin F. Bieniek, Bret M. Evers, Camilla Ferrari, Sara Rollinson, Anna Richardson, Elio Scarpini, Giorgio Fumagalli, Alessandro Padovani, John Hardy, Parastoo Momeni, Raffaele Ferrari, Francesca Frangipane, Raffaele Maletta, Maria Anfossi, Maura Gallo, Leonard Petrucelli, EunRan Suh, Oscar L. López, Tsz Hang Wong, Jeroen van Rooij, Harro Seelaar, Simon Mead, Richard J. Caselli, Eric M. Reiman, Marwan N. Sabbagh, Mads Kjølby, Anders Nykjær, Anna M. Karydas, Adam L. Boxer, Lea T. Grinberg, Jordan Grafman, Salvatore Spina, Adrian L. Oblak, M-Marsel Mesulam, Sandra Weıntraub, Changiz Geula, John R. Hodges, Olivier Piguet, William S. Brooks, David J. Irwin, John Q. Trojanowski, Edward B. Lee, Keith A. Josephs, Joseph E. Parisi, Nilüfer Ertekin‐Taner, David S. Knopman, Benedetta Nacmias, Irene Piaceri, Silvia Bagnoli, Sandro Sorbi, Marla Gearing, Jonathan D. Glass, Thomas G. Beach, Sandra E. Black, Mario Masellis, Ekaterina Rogaeva, Jean‐Paul Vonsattel, Lawrence S. Honig, Julia Kofler, Amalia C. Bruni, Julie S. Snowden, David M. A. Mann, Stuart Pickering‐Brown, Janine Diehl‐Schmid, Juliane Winkelmann, Daniela Galimberti, Caroline Graff, Linn Öijerstedt, Claire Troakes, Safa Al‐Sarraj, Carlos Cruchaga, Nigel J. Cairns, Jonathan D. Rohrer, Glenda M. Halliday, John B. Kwok, John C. van Swieten, Charles L. White, Bernardino Ghetti, Jill R. Murell, Ian R. Mackenzie, Ging‐Yuek Robin Hsiung, Barbara Borroni, Giacomina Rossi, Fabrizio Tagliavini, Zbigniew K. Wszołek, Ronald C. Petersen, Eileen H. Bigio, Murray Grossman, Vivianna M. Van Deerlin, William W. Seeley, Bruce L. Miller, Neill R. Graff‐Radford, Bradley F. Boeve, Dennis W. Dickson, Joanna M. Biernacka, Rosa Rademakers

Bibliographic record

Venuenot available
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsUniversity of British ColumbiaUniversity of TorontoWestern University
Fundersnot available
KeywordsFrontotemporal lobar degenerationDiseaseGeneticsGenome-wide association studyMedicineAge of onsetBiologyOncologySingle-nucleotide polymorphismFrontotemporal dementiaPathologyGenotypeGeneDementia
DOInot available

Abstract

fetched live from OpenAlex

OpenAlex records an abstract for this work, but it could not be fetched just now.

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)0.003
metaresearch head score (Gemma)0.003
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 score0.006
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.003
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.003
Bibliometrics0.0010.002
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.006
GPT teacher head0.221
Teacher spread0.214 · 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

Citations0
Published2018
Admission routes2
Has abstractyes

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