Bibliographic record
Abstract
Inherited myoclonus-dystonia (M-D)1 is a relatively new term used to describe patients diagnosed previously with “hereditary essential myoclonus” or “hereditary (alcohol-responsive) myoclonic dystonia”.1,2⇓ Clinical characteristics of this autosomal-dominant disorder (table 1) include myoclonic jerks affecting predominantly the neck, shoulders, and arms and dystonic symptoms, mainly torticollis and writer’s cramp. In addition to these involuntary movements, psychiatric problems (e.g., alcohol abuse, obsessive-compulsive disorder, and panic attacks) have often been noted in M-D families.3 View this table: Table 1 Clinical characteristics of inherited myoclonus-dystonia 1 Recently, Zimprich et al.3 identified five independent heterozygous loss-of-function mutations in the e-sarcoglycan ( SGCE ) gene (chromosome location, 7q21) in six German families with M-D. The sarcoglycans are transmembrane components of the dystrophin-glycoprotein complex, and mutations in four other known sarcoglycan genes have been found in patients with limb-girdle muscular dystrophy.4 Although many other M-D families have supported linkage to the locus on chromosome 7q21,3 in this issue of Neurology , Grimes et al.5 map a new locus for the disorder to a 17-cM region on chromosome 18p11 in a …
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.009 | 0.001 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".