RFC1-related disorder presenting recurrent syncope-Reference-Cited by-同舟云学术

RFC1-related disorder presenting recurrent syncope

Published:2024-03-07 Issue:7 Volume:271 Page:4635-4638
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Tsuboyama Yoko,Takahashi Akiko,Furukawa Sawako,Almansour Asem,Hamada Masashi,Kubota Akatsuki,Shimizu Jun,Kinoshita Makoto,Fujimoto Chisato,Mitsui Jun,Matsukawa Takashi,Naruse Hiroya,Ishiura Hiroyuki^ORCID,Tsuji Shoji,Toda Tatsushi

Funder

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00415-024-12231-5.pdf

Reference14 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. https://doi.org/10.1212/wnl.0b013e31821d746e

3. Traschütz A, Cortese A, Reich S et al (2021) Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease. Neurology 96(9):e1369–e1382. https://doi.org/10.1212/WNL.0000000000011528

4. Cortese A, Tozza S, Yau WY et al (2020) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain 143(2):480–490. https://doi.org/10.1093/brain/awz418

5. Currò R, Salvalaggio A, Tozza S et al (2021) RFC1 expansions are a common cause of idiopathic sensory neuropathy. Brain 144(5):1542–1550. https://doi.org/10.1093/brain/awab072