Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South Korea

참고문헌 (10)

1. Szmulewicz DJ, "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome(CANVAS) : a review of the clinical features and video-oculographic diagnosis", Ann N Y Acad Sci, 1233, pp.139~147 (2011)
2. Szmulewicz DJ, "Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome(CANVAS)", Neurol Clin Pract, 6, pp.61~68 (2016)
3. Cortese A, "Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia", Nat Genet, 51, pp.649~658 (2019)
4. Stevanovski I, "Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing", Sci Adv, 8, pp.eabm5386~ (2022)
5. Rafehi H, "Bioinformatics-based identification of expanded repeats : a non-reference intronic pentamer expansion in RFC1 causes CANVAS", Am J Hum Genet, 105, pp.151~165 (2019)
6. Zhang G, "Studies on the interactions between human replication factor C and human proliferating cell nuclear antigen", Proc Natl Acad Sci U S A, 96, pp.1869~1874 (1999)
7. Ronco R, "Truncating variants in RFC1 in cerebellar ataxia, neuropathy, and vestibular areflexia syndrome", Neurology, 100, pp.e543~e554 (2023)
8. Wada T, "RNA foci in two bi-allelic RFC1 expansion carriers", Ann Neurol, 95, pp.607~613 (2024)
9. Kulshreshtha D, "Expanding the clinical spectrum of RFC1 gene mutations", J Mov Disord, 15, pp.167~170 (2022)
10. Currò R, "Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease", Brain, 147, pp.1887~1898 (2024)

관련 논문AI추천