Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

Arslan, ELİF; Oncel, Ibrahim; Ceylan, Ahmet; Topcu, Meral; Topaloglu, Haluk

doi:10.1016/j.braindev.2019.08.004

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

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Arslan E., Oncel I., Ceylan A. C., Topcu M., Topaloglu H.

BRAIN & DEVELOPMENT, vol.42, no.1, pp.6-18, 2020 (SCI-Expanded)

Publication Type: Article / Article
Volume: 42 Issue: 1
Publication Date: 2020
Doi Number: 10.1016/j.braindev.2019.08.004
Journal Name: BRAIN & DEVELOPMENT
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
Page Numbers: pp.6-18
Karadeniz Technical University Affiliated: No

Abstract

Background: The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them.