Paulina Skoczylas-Gorka
Warsaw, MZ, Poland
Last Updated: 09/26/2026
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Found 9 publications
Clinic-to-Mechanism: Unraveling in-depth molecular dysfunctions caused by a GluN2B C-Terminal deletion in developmental and epileptic encephalopathies.
Journal: Translational psychiatry
Published: September 15, 2025
How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives.
Journal: Biomedicines
Published: March 31, 2024
SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.
Journal: Current issues in molecular biology
Published: March 30, 2024
Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.
Journal: International journal of molecular sciences
Published: November 30, 2022
Genetics of Parkinson's disease in the Polish population.
Journal: Neurologia i neurochirurgia polska
Published: December 23, 2020
Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017
Journal: Developmental period medicine
Published: January 02, 2018
The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.
Journal: Molecular neurodegeneration
Published: January 04, 2017
Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.
Journal: Journal of applied genetics
Published: September 30, 2015
Genomic instability in the PARK2 locus is associated with Parkinson's disease.
Journal: Journal of applied genetics
Published: November 25, 2014
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Last Updated: 09/26/2026