The DOI matches its Crossref record.
Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
Open accessAbstract
month-old French Canadian boy, was admitted to the Montreal ChiIdren's Hospital on Oct. 9, 1967, for evaluation of abnormal breathing and developmental retardation.He was the last of six children in his sibship, born after regnancy.Forceps were used during a delivery.nomdTrl ere was no history of trauma or anoxia at birth; however, his breathing, even at birth, was abnormally rapid.He smiled early.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cited by
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics · doi:10.1038/ng1419 · Cited by 408
Nephronophthisis-Associated Ciliopathies
Hildebrandt, F., & Zhou, W. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006121344 · Cited by 406
Schmahmann, J. D., & Pandya, D. N. (1989) · Journal of Comparative Neurology · doi:10.1002/cne.902890105 · Cited by 371
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
Spassky, N., Han, Y.-G., Aguilar, A., Strehl, L., Besse, L., Laclef, C., Romaguera Ros, M., Garcia-Verdugo, J. M., & Alvarez-Buylla, A. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.02.026 · Cited by 314
Saraiva, J. M., & Baraitser, M. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320430415 · Cited by 300
Metadata
- Authors
- Joubert, M., Eisenring, J.-J., Preston, J., & Andermann, F.
- Venue
- Neurology
- Published
- 1969-09
- Volume
- 19
- Issue
- 9
- Pages
- 813-813
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2128042564
- Cited by
- 650
- References
- 0
- FWCI
- 1.89
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. https://app.cochat.ai/papers/10.1212/wnl.19.9.813
- The paper
- Joubert, M., Eisenring, J.-J., Preston, J., & Andermann, F. (1969). Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. https://doi.org/10.1212/wnl.19.9.813
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
