Mariusz Berdynski
Warsaw, MZ, Poland
Last Updated: 09/26/2026
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Found 29 publications
Possible link between the apparently pathogenic FANCI variant and beneficial effects in sports performance.
Journal: Frontiers in genetics
Published: November 13, 2025
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.
Journal: The application of clinical genetics
Published: July 03, 2025
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.
Journal: Human mutation
Published: January 16, 2025
Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.
Journal: Folia neuropathologica
Published: August 21, 2024
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 Case.
Journal: International journal of molecular sciences
Published: October 09, 2023
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Journal: Journal of Alzheimer's disease : JAD
Published: August 29, 2022
Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population.
Journal: Journal of clinical medicine
Published: November 10, 2021
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Journal: Scientific reports
Published: August 11, 2021
Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population.
Journal: Genes
Published: May 25, 2021
Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.
Journal: Frontiers in molecular neuroscience
Published: March 05, 2021
Last Updated: 09/26/2026