<i>RFC1</i> Repeat Distribution in the Cypriot Population-Reference-Cited by-同舟云学术

RFC1 Repeat Distribution in the Cypriot Population

Published:2024-06 Issue:3 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Votsi Christina¹,Tomazou Marios¹,Nicolaou Paschalis¹,Pantzaris Marios C.¹,Pitsas Giorgos¹,Adamou Archontia¹,Kleopa Kleopas A.¹,Zamba-Papanicolaou Eleni¹,Christodoulou Kyproula¹^ORCID

Affiliation:

1. From the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200149

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1. Recessive ataxias

2. Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

3. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

4. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

5. A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

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