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Record W1973177963 · doi:10.3109/21678421.2013.778571

Genetic and epigenetic studies of amyotrophic lateral sclerosis

2013· review· en· W1973177963 on OpenAlexafffund
Ammar Al‐Chalabi, Shin Kwak, Mark F. Mehler, Guy A. Rouleau, Teepu Siddique, Michael J. Strong, Peter Leigh

Bibliographic record

VenueAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 2013
Typereview
Languageen
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsWestern UniversityMcGill UniversityMontreal Neurological Institute and Hospital
FundersNational Institutes of HealthCanada Research ChairsCanadian Institutes of Health ResearchLes Turner ALS FoundationNational Institute for Health and Care ResearchALS Society of CanadaMotor Neurone Disease AssociationTurner Foundation
KeywordsAmyotrophic lateral sclerosisEpigeneticsBiologyNeuroscienceProteasomeIdentification (biology)GeneBioinformaticsComputational biologyGeneticsMedicineDiseasePathology

Abstract

fetched live from OpenAlex

The identification of genetic and epigenetic factors that are associated with an increased risk of developing amyotrophic lateral sclerosis (ALS), or that modify the age of onset or rate of progression, requires a multimodal research strategy, facilitated through international collaboration. The discovery of several ALS genes strongly linked to RNA biology, the proteasome pathway, and axonal transport suggest they have an important role in pathogenesis, but the immense complexity of these processes is also apparent. The increasing rate of genetic discoveries brings the hope of designing more targeted and efficacious therapies.

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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesMeta-epidemiology (narrow)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.950
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0050.001
Bibliometrics0.0010.001
Science and technology studies0.0000.001
Scholarly communication0.0000.001
Open science0.0000.001
Research integrity0.0010.001
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 head0.158
GPT teacher head0.344
Teacher spread0.186 · 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; both teacher heads agree on what is shown here.

Study designOther design
Domainnot available
GenreReview

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

Citations36
Published2013
Admission routes2
Has abstractyes

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