Nigrostriatal dysfunction in RFC1-related disorder/CANVAS
Author:
Funder
Fundação de Amparo à Pesquisa do Estado de São Paulo
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference12 articles.
1. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia;Cortese;Nat. Genet.,2019
2. Traschütz A, Cortese A, Reich S, et al; RFC1 Study Group. Natural history, phenotypic spectrum, and Discriminative features of multisystemic RFC1 disease. Neurology 96 (201) e1369-e1382..
3. Autosomal recessive cerebellar ataxias in South America: a multicenter study of 1338 patients;Gama;Mov. Disord.,2022
4. RFC1 expansions are a common cause of idiopathic sensory neuropathy;Currò;Brain,2021
5. Dopa-responsive parkinsonism in a patient with homozygous RFC1 expansions;da Silva Schmitt;Mov. Disord.,2020
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome);Molecular Neurobiology;2024-06-19
2. RFC1: Motifs and phenotypes;Revue Neurologique;2024-05
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