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List of works by Cezary Zekanowski

A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy

scientific article published on 01 March 2019

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

scientific article

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

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

A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.

scientific article

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

Analysis of UBQLN1 variants in a Polish Alzheimer's disease patient: control series

scientific article published on 14 March 2008

Aneuploidy, chromosomal missegregation, and cell cycle reentry in Alzheimer's disease

scientific article published on January 2009

Association between plasma biomarkers, CDK5 polymorphism and the risk of Alzheimer's disease.

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

Association of a Variant of CNR1 Gene Encoding Cannabinoid Receptor 1 With Gilles de la Tourette Syndrome

scientific article published on 04 March 2020

Association of serotoninergic pathway gene variants with elite athletic status in the Polish population

scientific article published on 05 March 2019

Association study of cholesterol-related genes in Alzheimer's disease

scientific article published on 27 March 2007

Changes in the Hormonal Profile of Athletes following a Combat Sports Performance

scientific article published on 15 October 2020

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

scientific article published on 11 February 2021

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.

scientific article

Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene.

scientific article published in February 2003

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

scientific article published in January 2014

Functional characterization of a novel progranulin mutation in a patient with progressive nonfluent aphasia

scientific article published on 02 July 2018

Genetic aspects of Alzheimer's disease.

scientific article published on January 2004

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

scientific article published in April 2003

Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes

scientific article

Genetic variants associated with physical and mental characteristics of the elite athletes in the Polish population.

scientific article published on 3 May 2016

Hypermethylation of TRIM59 and KLF14 Influences Cell Death Signaling in Familial Alzheimer's Disease.

scientific article published on 4 April 2018

Integrated pathways of parkin control over mitochondrial maintenance - relevance to Parkinson's disease pathogenesis

scientific article published on January 2013

Interleukin-1 gene -511 CT polymorphism and the risk of Alzheimer's disease in a Polish population.

scientific article published on 20 November 2009

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

Linear patterns of Alzheimer's disease mutations along alpha-helices of presenilins as a tool for PS-1 model construction.

scientific article published in September 2006

Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson’s disease risk in a Polish PD cohort

scientific article published on 23 September 2008

Mitochondrial DNA in pathogenesis of Alzheimer's and Parkinson's diseases

scientific article published on January 2006

Mitochondrial DNA variation is associated with elite athletic status in the Polish population

scientific article published on 19 November 2012

Mitochondrial dysfunction and Alzheimer's disease

scientific article published in March 2011

Mitochondrial haplogroup H and Alzheimer's disease--is there a connection?

scientific article published on 4 March 2008

Mitochondrial transcription factor A variants and the risk of Parkinson's disease

scientific article published in January 2010

Modified aging of elite athletes revealed by analysis of epigenetic age markers

scientific article published on 15 February 2018

Molecular characterization of Polish patients with classical galactosaemia

scientific article published on 01 June 1999

Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia

scientific article (publication date: 2003)

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland

scientific article published on 01 December 2003

Myofibrillar myopathy in the genomic context

scientific article published on 10 September 2018

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

Oxidative DNA Damage Signalling in Neural Stem Cells in Alzheimer's Disease

scientific article published on 13 November 2019

PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups

scientific article published on 22 February 2012

PIN1 gene variants in Alzheimer's disease

scientific article published on 12 November 2009

Parkinson's disease-related gene variants influence pre-mRNA splicing processes.

scientific article published on 28 July 2016

Prion protein gene M129 allele is a risk factor for Alzheimer's disease.

scientific article published on 8 August 2006

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

Role of BRCA1 in Neuronal Death in Alzheimer's Disease

scientific article published on 10 April 2018

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience ⬇️

scientific article published on January 1, 2001

Sigma Receptor Type 1 Gene Variation in a Group of Polish Patients with Alzheimer’s Disease and Mild Cognitive Impairment

scientific article published in 2007

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

scientific article published on November 2010

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

scientific article published in January 2015

Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population

scientific article (publication date: 18 September 2003)

TOMM40 and APOE common genetic variants are not Parkinson's disease risk factors.

scientific article published on 21 March 2013

TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity

scientific article published in January 2012

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

The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort

scientific article published in March 2004

The Impact of Mitochondrial and Nuclear DNA Variants on Late-Onset Alzheimer's Disease Risk

scientific article published on 28 October 2011

The impact of mitochondrial DNA and nuclear genes related to mitochondrial functioning on the risk of Parkinson's disease.

scientific article published on December 2013

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

scientific article

Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment

scientific article published in July 2006

Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population.

scientific article published on 18 December 2007

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

scientific article published on 3 July 2018

[Atypical phenylketonuria treatment effectiveness]

scientific article published on 01 July 2002

[Novel PKU treatment methods]

scientific article published on 01 July 2002

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

scientific article published on 01 July 2012

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