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List of works by Mariusz Berdynski

A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function

scientific article

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.

scientific article published on 30 January 2013

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

scientific article

Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration

scientific article published in January 2013

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

scientific article

Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.

scientific article published on 28 August 2015

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

scientific article published on 11 February 2021

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives

scientific article published on 21 March 2017

Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.

scientific article published in January 2014

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

scientific article published on January 2010

Myosin VI localization and expression in striated muscle pathology.

scientific article

Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.

scientific article published in January 2018

PIN1 gene variants in Alzheimer's disease

scientific article published on 12 November 2009

Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

scientific article published on 10 August 2020

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

scientific article published on 30 August 2011

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.

scientific article published on 30 July 2013

Sporadic inclusion body myositis: clinical, pathological, and genetic analysis of eight Polish patients.

scientific article published in January 2015

TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients.

scientific article published on 20 March 2018

The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

scientific article

[TDP-43 proteinopathies - from frontotemporal lobar degeneration to inclusion body myositis]

scientific article published on 01 July 2012

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