Author

Paulina Górka-Skoczylas

Observed names: Górka-Skoczylas, Paulina, GĂłrka-Skoczylas, Paulina, P. Gorka-Skoczylas, P. Górka, P. Górka-Skoczylas, PAULINA GÓRKA-SKOCZYLAS, Paulina Gorka-Skoczylas, Paulina Górka, Paulina Górka-skoczylas

Institution: Instytut Matki i Dziecka

Observed institutions: Instytut Matki i Dziecka, University of Warsaw

ORCID: 0000-0003-0816-6411

Observed ORCID: 0000-0003-0816-6411

OpenAlex ID: A5013316693

The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity

2017 · Maya Ando, Fabienne C. Fiesel, et al. · Molecular Neurodegeneration · 78

PDF

Genomic instability in the PARK2 locus is associated with Parkinson’s disease

2015 · Wojciech Ambroziak, Dariusz Koziorowski, et al. · Journal of Applied Genetics · 42

PDF

Genetics of Parkinson’s disease in the Polish population

2021 · Łukasz M. Milanowski, Owen A. Ross, et al. · Neurologia i Neurochirurgia Polska · 21

PDF

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

2016 · Dorota Hoffman-Zacharska, Tomasz Mazurczak, et al. · Journal of Applied Genetics · 11

SCN1A—Characterization of the Gene’s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience

2024 · Elżbieta Stawicka, Anita Zielińska, et al. · Current Issues in Molecular Biology · 3

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series

2023 · Agnieszka Charzewska, Iwona Terczyńska, et al. · International Journal of Molecular Sciences · 3

PDF

How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives

2024 · Anita Zielińska, Urszula Skarżyńska, et al. · Biomedicines · 1

The PINK1 p.I368N mutation affects protein stability and disrupts kinase activity

2017 · M. Ando, F.C. Fiesel, et al. · Journal of the Neurological Sciences · 1

Connatal Pelizaeus-Merzbacher disease caused by Xq21-22 submicroscopic duplication including the PLP1 gene - case report

2013 · Dorota Hoffman‐Zacharska, Hanna Mierzewska, et al. · 1

Clinic-to-Mechanism: Unraveling in-depth molecular dysfunctions caused by a GluN2B C-Terminal deletion in developmental and epileptic encephalopathies

2026 · Roza Szlendak, Nathalie Bouquier, et al. · Translational Psychiatry

Non-dravet syndrome epilepsy in 4 polish patients with SCN1A de novo mutations

2024 · Anita Zielińska, Paulina Górka-Skoczylas, et al. · Open Journal of Clinical and Medical Case Reports

PDF

A new look at the clinical and molecular characteristics of SCN1A-related developmental and epileptic encephalopathies

2022 · Klinika Neurologii Dzieci i Młodzieży, Instytut Matki i Dziecka w Warszawie, Warszawa, Polska, Elżbieta Stawicka, et al. · Aktualności Neurologiczne

PDF

[Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017].

2019 · Dorota Hoffman-Zacharska, Paulina Górka-Skoczylas · PubMed

The PINK1 p.I368N Mutation Affects Protein Stability and Kinase Activity with Its Structural Change

2018 · MAYA ANDO, FABIENNE C. FIESEL, et al. · Juntendō Igaku/Juntendo igaku

PDF

Not only Dravet Syndrome – How broad the phenotypic spectrum of SCN1A mutations may be?

2017 · D. Hoffman-Zacharska, I. Terczynska, et al. · European Journal of Paediatric Neurology

Additional file 4: Table S2. of The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity

2017 · Ando, Maya, Fiesel, Fabienne, et al. · Figshare

Additional file 1: Table S1. of The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity

2017 · Ando, Maya, Fiesel, Fabienne, et al. · Figshare