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Acta Neurobiologiae Experimentalis|July 5, 2014
The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndromePiotr Janik, Mariusz Berdyński, Krzysztof Safranow, et al.
Human Mutation|June 24, 2025
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide LengthMariusz Berdyński, Krzysztof Safranow, Peter M Andersen, et al.
Plos One|August 29, 2015
Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish PopulationPiotr Janik, Mariusz Berdyński, Krzysztof Safranow, et al.
Neurologia I Neurochirurgia Polska|October 2, 2012
[TDP-43 proteinopathies - from frontotemporal lobar degeneration to inclusion body myositis]Biruta Kierdaszuk, Mariusz Berdyński, Cezary Zekanowski, et al.
Folia Neuropathologica|August 21, 2024
Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases studyAnna Barczak, Mariusz Berdyński, Tomasz Gabryelewicz, et al.
Frontiers in Molecular Neuroscience|May 31, 2021
Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN DeficiencyKatarzyna Gaweda-Walerych, Dawid Walerych, Mariusz Berdyński, et al.
Frontiers in Genetics|February 24, 2026
Possible link between the apparently pathogenic <i>FANCI</i> variant and beneficial effects in sports performanceMariusz Berdyński, Małgorzata Borczyk, Kinga Humińska-Lisowska, et al.
Genes|July 2, 2021
Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish PopulationJakub P Fichna, Kinga Humińska-Lisowska, Krzysztof Safranow, et al.
International Journal of Molecular Sciences|December 9, 2023
Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease CaseMichalina Wężyk, Mariusz Berdyński, Adam Figarski, et al.
Scientific Reports|January 8, 2022
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severityMariusz Berdyński, Przemysław Miszta, Krzysztof Safranow, et al.
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