Prominent Head and Arm Tremor in Late‐Onset Pelizaeus‐Merzbacher‐Like Disease 1
Bibliographic record
Abstract
Ethical Compliance Statement: The study was conducted in accordance with the Declaration of Helsinki. The authors confirm that the approval of an institutional review board was not required for this work. The patient gave informed consent including being videotaped for publication online. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. Funding Sources and Conflict of Interest: KS: No specific funding was received for this work. TM was supported by the BIH-Charité Clinician Scientist Program of the Charité-Universitätsmedizin Berlin and the Berlin Institute of Health. She has received royalties from Elsevier in Urban & Fischer, Springer Medizin Verlag GmbH, speaker fees from Stadapharm and Bial, and has served on an advisory board for Biomarin Pharmaceutical. LG is participant in the BIH Charité Junior Clinician Scientist Program funded by the Charité – Universitätsmedizin Berlin, and the Berlin Institute of Health at Charité (BIH). JA is participant in the BIH Charité Junior Clinician Scientist Program funded by the Charité – Universitätsmedizin Berlin, and the Berlin Institute of Health at Charité (BIH). CGorodetsky received honoraria and advisory board fees from Medtronic Inc, received honoraria from Ipsen Inc. CGanos received academic research support from the VolkswagenStiftung (Freigeist Fellowship). He holds the Wolf Chair for Neurodevelopmental Psychiatry, a joint Hospital-University Named Chair between the University of Toronto, UHN, and the UHN Foundation. Financial Disclosures for the previous 12 months: The authors declare that there are no additional disclosures to report. Figure S1. Phenotypic spectrum of GJC2 mutations. AD = Autosomal dominant; AR = Autosomal recessive. Data S1. Supporting Information. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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 imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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) | 0.000 | 0.000 |
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.
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 teacher head, 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".