Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia-Reference-Cited by-同舟云学术

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia

Published:2021-03-29 Issue:1 Volume:100 Page:90-94
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Kontogeorgiou Zoi¹,Kartanou Chrisoula¹,Tsirligkani Chrysanthi¹,Anagnostou Evangelos²,Rentzos Michail³,Stefanis Leonidas³,Karadima Georgia¹,Koutsis Georgios¹^ORCID

Affiliation:

1. Neurogenetics Unit, 1^st Department of Neurology Eginitio University Hospital, National and Kapodistrian University of Athens Athens Greece

2. Clinical Neurophysiology Unit, 1^st Department of Neurology Eginitio University Hospital, National and Kapodistrian University of Athens Athens Greece

3. 1^st Department of Neurology Eginitio University Hospital, National and Kapodistrian University of Athens Athens Greece

Funder

Genesis Pharma

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13960

Reference12 articles.

1. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis

2. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign