The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Friedreich ataxia: The clinical picture
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Citations
Cites
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786
Self-citationHARDING, A. E. (1981) · Brain · doi:10.1093/brain/104.3.589 · Cited by 925
Filla, A., Michele, G. D., Cavalcanti, F., Pianese, L., Monticelli, A., Campanella, G., & Cocozza, S. (1996) · PubMed · Cited by 496
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
Koutnikova, H., Campuzano, V., Foury, F., Dollé, P., Cazzalini, O., & Koenig, M. (1997) · Nature Genetics · doi:10.1038/ng0897-345 · Cited by 474
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
Herman, D., Jenssen, K., Burnett, R., Soragni, E., Perlman, S. L., & Gottesfeld, J. M. (2006) · Nature Chemical Biology · doi:10.1038/nchembio815 · Cited by 442
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Coss�e, M., D�rr, A., Schmitt, M., Dahl, N., Trouillas, P., Allinson, P., Kostrzewa, M., Nivelon-Chevallier, A., Gustavson, K.-H., Kohlsch�tter, A., et al. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u · Cited by 387
Self-citationBidichandani, S. I., Ashizawa, T., & Patel, P. I. (1998) · The American Journal of Human Genetics · doi:10.1086/301680 · Cited by 381
Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations
Cossée, M., Schmitt, M., Campuzano, V., Reutenauer, L., Moutou, C., Mandel, J.-L., & Koenig, M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.14.7452 · Cited by 331
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
Chamberlain, S., Shaw, J., Rowland, A., Wallis, J., South, S., Nakamura, Y., von Gabain, A., Farrall, M., & Williamson, R. (1988) · Nature · doi:10.1038/334248a0 · Cited by 318
Molecular Basis of Genetic Instability of Triplet Repeats
Wells, R. D. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.6.2875 · Cited by 303
Cited by
Iron metabolism in the CNS: implications for neurodegenerative diseases
Rouault, T. A. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3453 · Cited by 496
Kell, D. B. (2010) · Archives of Toxicology · doi:10.1007/s00204-010-0577-x · Cited by 361
The neural mechanisms of manual dexterity
Sobinov, A. R., & Bensmaia, S. J. (2021) · Nature Reviews Neuroscience · doi:10.1038/s41583-021-00528-7 · Cited by 248
Constructing and Deconstructing Stem Cell Models of Neurological Disease
Han, S. S. W., Williams, L. A., & Eggan, K. C. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.003 · Cited by 159
Metadata
- Authors
- Pandolfo, M.
- Venue
- Journal of Neurology
- Published
- 2009-03
- Volume
- 256
- Issue
- S1
- Pages
- 3-8
- ISSN
- 0012-1037 (ISSN-L)
- 0340-5354
- 1432-1459
- OpenAlex
- W2155385687
- Cited by
- 396
- References
- 35
- FWCI
- 10.29
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Friedreich ataxia: The clinical picture. https://app.cochat.ai/papers/10.1007/s00415-009-1002-3
- The paper
- Pandolfo, M. (2009). Friedreich ataxia: The clinical picture. Journal of Neurology. https://doi.org/10.1007/s00415-009-1002-3
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.