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Record W1967560577 · doi:10.1159/000274996

Myopathia oculo-pharyngealis tarda hereditaria

2010· article· en· W1967560577 on OpenAlexaboutno aff
K. Graf

Bibliographic record

VenuePractica Oto-Rhino-Laryngologica · 2010
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicProtein Tyrosine Phosphatases
Canadian institutionsnot available
Fundersnot available
KeywordsMyopathyWeaknessMedicineAtrophyMasticatory forcePediatricsAnatomyPathologyOrthodontics

Abstract

fetched live from OpenAlex

A case of late-developing hereditary oculopharyngeal myopathy in a man of 58 is described. Increasing difficulty in eating and drinking developed gradually over about 10 years. In addition to weakness of the masticatory muscles and atrophy of the muscles of the face, the case presented a pronounced bilateral myogenic blepharoptosis. Examination of the siblings led to discovery of several further cases, indicative of an autosomal dominant inheritance. This condition has been frequently observed and described in Canada, but is hitherto almost unrecognized in Europe. Attention is drawn to the possible combination with slowly progressing inner-ear deafness.

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)0.004
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.414
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
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 head0.006
GPT teacher head0.250
Teacher spread0.244 · 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.

Study designBench or experimental
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

Citations6
Published2010
Admission routes1
Has abstractyes

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