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List of works by Anna Walczak

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

scientific article

An association of the MCP-1 and CCR2 single nucleotide polymorphisms with colorectal cancer prevalence

scientific article published in October 2017

Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population

scientific article

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

scientific article

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

scientific article published on 08 June 2016

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

DNA damage and repair of head and neck cancer cells after radio- and chemotherapy

scientific article published on July 2009

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

scientific article published on 13 June 2018

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

scientific article published in March 2018

Evaluation of DNA double strand breaks repair efficiency in head and neck cancer

scientific article published on 29 August 2011

Evaluation of polymorphisms in microRNA biosynthesis genes and risk of laryngeal cancer in the Polish population

scientific article

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

article

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

scientific article published on 01 September 2014

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

article

Inverse association between obesity predisposing FTO genotype and completed suicide

scientific article

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

scientific article published on 14 July 2016

Melatonin reduces oxidative stress in the erythrocytes of multiple sclerosis patients with secondary progressive clinical course

scientific article published on 19 March 2013

MicroRNAs in glaucoma and neurodegenerative diseases

scientific article

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

scientific article published on 11 October 2018

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

scientific article

Oxidative modification of patient's plasma proteins and its role in pathogenesis of multiple sclerosis

scientific article published on 14 October 2011

Polymorphisms of the XRCC3 C722T and the RAD51 G135C genes and the risk of head and neck cancer in a Polish population

scientific article published on 8 September 2010

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

scientific article published on 13 July 2020

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

scientific article published on 4 July 2016

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

scientific article published on 22 April 2016

The -2518 A/G MCP-1 Polymorphism as a Risk Factor of Inflammatory Bowel Disease ⬇️

scientific article published on May 1, 2012

The lL-8 and IL-13 gene polymorphisms in inflammatory bowel disease and colorectal cancer

scientific article

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