The DOI matches its Crossref record; 63 of the 63 references it cites were found in a registry or an index.
Hereditary ataxias: overview
Open accessOverview
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
Cites
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
Durr, A. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70183-6 · Cited by 656
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Koob, M. D., Moseley, M. L., Schut, L. J., Benzow, K. A., Bird, T. D., Day, J. W., & Ranum, L. P. W. (1999) · Nature Genetics · doi:10.1038/7710 · Cited by 638
Self-citationTakashima, H., Boerkoel, C. F., John, J., Saifi, G. M., Salih, M. A. M., Armstrong, D., Mao, Y., Quiocho, F. A., Roa, B. B., Nakagawa, M., et al. (2002) · Nature Genetics · doi:10.1038/ng987 · Cited by 522
Mutations in PTF1A cause pancreatic and cerebellar agenesis
Sellick, G. S., Barker, K. T., Stolte-Dijkstra, I., Fleischmann, C., J Coleman, R., Garrett, C., Gloyn, A. L., Edghill, E. L., Hattersley, A. T., Wellauer, P. K., et al. (2004) · Nature Genetics · doi:10.1038/ng1475 · Cited by 454
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
Gros-Louis, F., Dupré, N., Dion, P., Fox, M. A., Laurent, S., Verreault, S., Sanes, J. R., Bouchard, J.-P., & Rouleau, G. A. (2007) · Nature Genetics · doi:10.1038/ng1927 · Cited by 347
Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
Berry‐Kravis, E., Abrams, L., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B., Jacquemont, S., et al. (2007) · Movement Disorders · doi:10.1002/mds.21493 · Cited by 331
Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
Schöls, L., Amoiridis, G., Büttner, T., Przuntek, H., Epplen, J. T., & Riess, O. (1997) · Annals of Neurology · doi:10.1002/ana.410420615 · Cited by 327
Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria
Dixon-Salazar, T., Silhavy, J. L., Marsh, S. E., Louie, C. M., Scott, L. C., Gururaj, A., Al-Gazali, L., Al-Tawari, A. A., Kayserili, H., Sztriha, L., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425985 · Cited by 292
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
Van Goethem, G., Luoma, P., Rantamäki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Löfgren, A., Martin, J. J., De Jonghe, P., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000140494.58732.83 · Cited by 261
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
van de Warrenburg, B. P. C., Sinke, R. J., Verschuuren–Bemelmans, C. C., Scheffer, H., Brunt, E. R., Ippel, P. F., Maat–Kievit, J. A., Dooijes, D., Notermans, N. C., Lindhout, D., et al. (2002) · Neurology · doi:10.1212/wnl.58.5.702 · Cited by 254
Cited by
Eid, R., Arab, N. T. T., & Greenwood, M. T. (2017) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2016.12.002 · Cited by 288
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay
Kim, M., Sandford, E., Gatica, D., Qiu, Y., Liu, X., Zheng, Y., Schulman, B. A., Xu, J., Semple, I., Ro, S.-H., et al. (2016) · eLife · doi:10.7554/elife.12245 · Cited by 225
Classification of Intervertebral Disc Disease
Fenn, J., Olby, N. J., & The Canine Spinal Cord Injury Consortium (CANSORT-SCI) (2020) · Frontiers in Veterinary Science · doi:10.3389/fvets.2020.579025 · Cited by 142
Repetitive blast exposure in mice and combat veterans causes persistent cerebellar dysfunction
Meabon, J. S., Huber, B. R., Cross, D. J., Richards, T. L., Minoshima, S., Pagulayan, K. F., Li, G., Meeker, K. D., Kraemer, B. C., Petrie, E. C., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaa9585 · Cited by 138
Rubicon: LC 3‐associated phagocytosis and beyond
Wong, S., Sil, P., & Martinez, J. (2018) · The FEBS Journal · doi:10.1111/febs.14354 · Cited by 101
Metadata
- Authors
- Jayadev, S., & Bird, T. D.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2013-09
- Volume
- 15
- Issue
- 9
- Pages
- 673-683
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W1972740406
- Cited by
- 271
- References
- 63
- FWCI
- 6.26
- 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: Hereditary ataxias: overview. https://app.cochat.ai/papers/10.1038/gim.2013.28
- The paper
- Jayadev, S., & Bird, T. D. (2013). Hereditary ataxias: overview. Genetics in Medicine. https://doi.org/10.1038/gim.2013.28
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.
