Work

Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay

Year: 2020

Type: article

Study design: Case Report

Source: Brain Research

DOI: 10.1016/j.brainres.2020.147167

Authors: Koray Kırımtay, Benan Temizci, Murat Gültekin, Zuhal Yapıcı, Arzu Karabay

Institutions: Istanbul Technical University, Erciyes University, Istanbul University-Cerrahpaşa, Istanbul University

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Türkiye Bilimsel ve Teknolojik Araştırma Kurumu, Istanbul Teknik Üniversitesi

OpenAlex ID: W3093166972

FWCI: 0.59

Cites: 27

Cited by: 17

Related to: 10