E.V. Gaisina

E.V. Gaisina

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E.V. Gaisina

Republican Medical and Genetic Center

Research Focus & Metrics

Academic Career Length

3Years (2024-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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23 April 2024 in S.S. Korsakov Journal of Neurology and Psychiatry
Verified
Journal Article
Closed access
EPE.V. Pervushina
E.V. Pervushina
MKMansur A. A. Kutlubaev
Mansur A. A. Kutlubaev
ESE.V. Saifullina
E.V. Saifullina
EGE.V. Gaisina
E.V. Gaisina
LSL.A. Smakova
L.A. Smakova
IKIrina Khidiyatova
Irina Khidiyatova
Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10—15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013. A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.