Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort-Reference-Cited by-同舟云学术

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Published:2021-03-05 Issue: Volume: Page:
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Montaut Solveig^ORCID,Diedhiou Nadège,Fahrer Pauline,Marelli Cécilia,Lhermitte Benoit,Robelin Laura,Vincent Marie Claire,Corti Lucas,Taieb Guillaume,Gebus Odile,Rudolf Gabrielle,Tarabeux Julien,Dondaine Nicolas,Canuet Matthieu,Almeras Marilyne,Benkirane Mehdi,Larrieu Lise,Chanson Jean-Baptiste,Nadaj-Pakleza Aleksandra,Echaniz-Laguna Andoni,Cauquil Cécile,Lannes Béatrice,Chelly Jamel,Anheim Mathieu,Puccio Hélène,Tranchant Christine

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-021-10499-5.pdf

Reference15 articles.

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2. Szmulewicz DJ, Waterston JA, Halmagyi GM et al (2011) Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology 76(22):1903–1910

3. Szmulewicz DJ, Waterston JA, MacDougall HG 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 1233:139–147

4. Cortese A, Tozza S, Yau WY et al (2020) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain 143:480–490

5. Cortese A, Simone R, Sullivan R et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51:649–658

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