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Record W2064807978 · doi:10.1212/wnl.0b013e3181ed9ee4

<i>FUS</i> mutations in sporadic juvenile ALS

2010· letter· de· W2064807978 on OpenAlexaff
David G. Muñoz

Bibliographic record

VenueNeurology · 2010
Typeletter
Languagede
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsSt. Michael's Hospital
Fundersnot available
KeywordsPathogenesisJuvenileBiologyGeneticsNeuroscienceMedicineImmunology

Abstract

fetched live from OpenAlex

Deposition of abnormal proteins constitutes a major hallmark of the neurodegenerative diseases. The appearance of abnormal protein deposits in neurons consistently precedes cell death in the same population, as best documented in the hierarchical progression of Parkinson disease1 and Alzheimer disease.2 In most instances, mutations in the corresponding gene have been identified only in a subset of those affected, usually in patients with a distinct family history. That the cytoplasm of motor neurons harbors abnormal protein deposits in amyotrophic lateral sclerosis (ALS) has been known for some time; those deposits bind ubiquitin nonspecifically, but it was only in 2006 that TDP-43 was pinpointed as an associated protein in over 90% of cases.3 TDP-43 is normally located in neuronal and glial nuclei but in ALS it appears in cytoplasmic inclusions. Importantly, mutations in the encoding gene, TARDBP , were discovered recently in familial ALS (FALS).4 Ubiquitinated inclusions of TDP-43 also were observed in neuronal and glial cytoplasm in the majority of patients with frontotemporal lobar degeneration (FTLD-U), the most common form of frontotemporal dementia. The presence of TDP-43 …

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 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)0.004
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: none
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.008
Threshold uncertainty score0.016

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0020.001
Scholarly communication0.0010.001
Open science0.0010.000
Research integrity0.0080.002
Insufficient payload (model declined to judge)0.0030.002

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 head0.024
GPT teacher head0.291
Teacher spread0.267 · 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
GenreOther

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

Citations6
Published2010
Admission routes1
Has abstractyes

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