The DOI matches its Crossref record; 157 of the 157 references it cites were found in a registry or an index.
Brain pathology of spinocerebellar ataxias
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Citations
Cites
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-221 · Cited by 1,753
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 · cited 4×
“Table 1 The spinocerebellar ataxias SCA Disease gene Mutational mechanism Age of onset Symptoms additional to ataxia, dysarthria and oculomotor symptoms SCA1 Ataxin-1 [5, 116] CAG repeat expansion Early to mid adulthood Dysphagia, pyramidal and extrapyramidal signs, sensory deficits, cognitive decline SCA2 Ataxin-2 [7…”
BackgroundInfluentialZhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D. W., Amos, C., Dobyns, W. B., Subramony, S. H., Zoghbi, H. Y., & Lee, C. C. (1997) · Nature Genetics · doi:10.1038/ng0197-62 · Cited by 1,583
Trinucleotide Repeat Disorders
Orr, H. T., & Zoghbi, H. Y. (2007) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.29.051605.113042 · Cited by 1,368
Glutamine Repeats and Neurodegeneration
Zoghbi, H. Y., & Orr, H. T. (2000) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.23.1.217 · Cited by 1,309
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-269 · Cited by 1,113
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., et al. (1994) · Nature Genetics · doi:10.1038/ng0194-9 · Cited by 1,111
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
Schöls, L., Bauer, P., Schmidt, T., Schulte, T., & Riess, O. (2004) · The Lancet Neurology · doi:10.1016/s1474-4422(04)00737-9 · Cited by 1,058
Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-285 · Cited by 849
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P., Mandel, J.-L., Fischbeck, K. H., & Pittman, R. N. (1997) · Neuron · doi:10.1016/s0896-6273(00)80943-5 · Cited by 830
Cited by
Antisense oligonucleotides: the next frontier for treatment of neurological disorders
Rinaldi, C., & Wood, M. J. A. (2018) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.148 · Cited by 788
Polyglutamine spinocerebellar ataxias — from genes to potential treatments
Paulson, H. L., Shakkottai, V. G., Clark, H. B., & Orr, H. T. (2017) · Nature Reviews Neuroscience · doi:10.1038/nrn.2017.92 · Cited by 373
Rüb, U., Seidel, K., Heinsen, H., Vonsattel, J. P., den Dunnen, W. F., & Korf, H. W. (2016) · Brain Pathology · doi:10.1111/bpa.12426 · Cited by 206
Self-citationCadieux-Dion, M., Turcotte-Gauthier, M., Noreau, A., Martin, C., Meloche, C., Gravel, M., Drouin, C. A., Rouleau, G. A., Nguyen, D. K., & Cossette, P. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2013.6337 · Cited by 124
Butcher, P. A., Ivry, R. B., Kuo, S.-H., Rydz, D., Krakauer, J. W., & Taylor, J. A. (2017) · Journal of Neurophysiology · doi:10.1152/jn.00451.2017 · Cited by 119
Metadata
- Authors
- Seidel, K., Siswanto, S., Brunt, E. R. P., den Dunnen, W., Korf, H.-W., & Rüb, U.
- Venue
- Acta Neuropathologica
- Published
- 2012-06-09
- Volume
- 124
- Issue
- 1
- Pages
- 1-21
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2065808064
- Cited by
- 403
- References
- 157
- FWCI
- 11.77
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Brain pathology of spinocerebellar ataxias. https://app.cochat.ai/papers/10.1007/s00401-012-1000-x
- The paper
- Seidel, K., Siswanto, S., Brunt, E. R. P., den Dunnen, W., Korf, H.-W., & Rüb, U. (2012). Brain pathology of spinocerebellar ataxias. Acta Neuropathologica. https://doi.org/10.1007/s00401-012-1000-x
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.