An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)
Author:
Funder
Department of Science and Technology, Ministry of Science and Technology, India
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12035-024-04307-0.pdf
Reference68 articles.
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2. Depienne C, Mandel JL (2021) 30 years of repeat expansion disorders: what have we learned and what are the remaining challenges? Am J Hum Genet 108(5):764–785. https://doi.org/10.1016/j.ajhg.2021.03.011
3. Dominik N, Galassi Deforie V, Cortese A, Houlden H (2021) CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions. J Neurol 268(3):1119–1126. https://doi.org/10.1007/s00415-020-10183-0
4. Cortese A et al (2020) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain 143(2):489–490. https://doi.org/10.1093/brain/awz418
5. Szmulewicz DJ, Waterston JA, Macdougall HG, Mossman S, Chancellor AM, Mclean CA, Merchant S, Patrikios P et al (2011) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci 1233(1):139–147. https://doi.org/10.1111/j.1749-6632.2011.06158.x
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