The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
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Citations
Cites
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632
Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H., & Wanker, E. E. (1997) · Cell · doi:10.1016/s0092-8674(00)80514-0 · Cited by 1,291
Chen, H.-K., Fernandez-Funez, P., Acevedo, S. F., Lam, Y. C., Kaytor, M. D., Fernandez, M. H., Aitken, A., Skoulakis, E. M. C., Orr, H. T., Botas, J., et al. (2003) · Cell · doi:10.1016/s0092-8674(03)00349-0 · Cited by 414
Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice
Emamian, E. S., Kaytor, M. D., Duvick, L. A., Zu, T., Tousey, S. K., Zoghbi, H. Y., Clark, H. B., & Orr, H. T. (2003) · Neuron · doi:10.1016/s0896-6273(03)00258-7 · Cited by 305
Cited by
The autosomal recessive cerebellar ataxias.
Anheim, M., Tranchant, C., & Koenig, M. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1006610 · Cited by 356
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
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Di Bella, D., Lazzaro, F., Brusco, A., Plumari, M., Battaglia, G., Pastore, A., Finardi, A., Cagnoli, C., Tempia, F., Frontali, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.544 · Cited by 344
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Schüle, R., Wiethoff, S., Martus, P., Karle, K. N., Otto, S., Klebe, S., Klimpe, S., Gallenmüller, C., Kurzwelly, D., Henkel, D., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24611 · Cited by 315
Self-citationToward understanding Machado–Joseph disease
Costa, M. D. C., & Paulson, H. L. (2012) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.11.006 · Cited by 260
Metadata
- Authors
- Schöls, L., Bauer, P., Schmidt, T., Schulte, T., & Riess, O.
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2004-05
- Volume
- 3
- Issue
- 5
- Pages
- 291-304
- ISSN
- 1474-4422 (ISSN-L)
- OpenAlex
- W2105954114
- Cited by
- 1,058
- References
- 4
- FWCI
- 16.29
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. https://app.cochat.ai/papers/10.1016/s1474-4422(04)00737-9
- The paper
- Schöls, L., Bauer, P., Schmidt, T., Schulte, T., & Riess, O. (2004). Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. The Lancet Neurology. https://doi.org/10.1016/s1474-4422(04)00737-9
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.