Lista de obras - Cezary Żekanowski - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2007

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

artículo científico publicado en 2020

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Genetic aspects of Alzheimer's disease.

artículo científico publicado en 2004

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Mitochondrial dysfunction and Alzheimer's disease

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Molecular characterization of Polish patients with classical galactosaemia

artículo científico publicado en 1999

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Myofibrillar myopathy in the genomic context

artículo científico publicado en 2018

Myosin VI localization and expression in striated muscle pathology.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2012

PIN1 gene variants in Alzheimer's disease

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de enero de 2001

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

artículo científico publicado en 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]

artículo científico publicado en 2012

Lista de obras de Cezary Żekanowski

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

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

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

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

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

Genetic aspects of Alzheimer's disease.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

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

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

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

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

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

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

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

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

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

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

Mitochondrial dysfunction and Alzheimer's disease

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

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

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

Molecular characterization of Polish patients with classical galactosaemia

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

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

Myofibrillar myopathy in the genomic context

Myosin VI localization and expression in striated muscle pathology.

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

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

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

PIN1 gene variants in Alzheimer's disease

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

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

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

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

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

Role of BRCA1 in Neuronal Death in Alzheimer's Disease

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

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

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

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

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

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

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

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

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

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

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

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

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

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

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

[Atypical phenylketonuria treatment effectiveness]

[Novel PKU treatment methods]

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