List of works - Katarzyna Tonska

A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients

article

Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy.

scientific article published on 21 March 2018

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant"

scientific article published on 09 March 2020

Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

scientific article

Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups

scientific article published on 01 January 2004

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

scientific article published in November 2002

G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child

scientific article published on 01 January 2007

Genotype-phenotype correlations in Leber hereditary optic neuropathy

scientific article published on 06 March 2010

Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy

scientific article published on 01 January 2002

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

scientific article published on 21 January 2017

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria

scientific article (publication date: 15 September 2003)

Investigation of whole mitochondrial genome variation in normal tension glaucoma

scientific article published on 09 October 2018

Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.

scientific article published on 26 September 2014

Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology.

scientific article published on January 2003

Mitochondria and aging: innocent bystanders or guilty parties?

scientific article published on 01 January 2009

Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer

scientific article published on 07 April 2015

Mitochondrial DNA in pediatric leukemia patients.

scientific article

Mitochondrial DNA in polish centenarians

scientific article published on 01 January 2004

Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts

scientific article

Mitochondrial cytopathies: clinical, morphological and genetic characteristics.

scientific article

Mitochondrial encephalomyopathy: towards diagnosis. A case report

scientific article published on 23 January 2014

Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation

scientific article published on 10 August 2012

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

scientific article published on 01 August 2020

Mitochondrial genotype in vulvar carcinoma - cuckoo in the nest

scientific article

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests

scientific article published on 02 July 2012

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.

scientific article published on 17 January 2018

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation

scientific article published on 31 December 2020

RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA

scientific article published on 01 January 2019

Sex, death and the (nerve) cell.

scientific article published on January 2012

Testosterone increases apoptotic cell death and decreases mitophagy in Leber's hereditary optic neuropathy cells

scientific article published on 10 March 2020

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion

scientific article published on 26 November 2019

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

scientific article published on 16 June 2015

[A case or Leber hereditary optic neuropathy (LHON): differential diagnosis with post inflammatory atrophy of nerve II using the mtDNA analysis]

scientific article published on 01 January 2003

[Comparison of the biological principles underlying the action of monoclonal antibody (mAb) and decoy receptor anti-VEGF agents--on the example of ranibizumab (anti-VEGF-A mAb) and aflibercept (decoy VEGFR1-2 receptor)].

scientific article

[Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype]

scientific article published on 01 May 2003

[Mitochondrial diseases 2018]

scientific article published on 01 December 2018

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.

scientific article published on 19 April 2014

List of works by Katarzyna Tonska

A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients

Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy.

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant"

Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child

Genotype-phenotype correlations in Leber hereditary optic neuropathy

Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria

Investigation of whole mitochondrial genome variation in normal tension glaucoma

Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.

Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology.

Mitochondria and aging: innocent bystanders or guilty parties?

Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer

Mitochondrial DNA in pediatric leukemia patients.

Mitochondrial DNA in polish centenarians

Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts

Mitochondrial cytopathies: clinical, morphological and genetic characteristics.

Mitochondrial encephalomyopathy: towards diagnosis. A case report

Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Mitochondrial genotype in vulvar carcinoma - cuckoo in the nest

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation

RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA

Sex, death and the (nerve) cell.

Testosterone increases apoptotic cell death and decreases mitophagy in Leber's hereditary optic neuropathy cells

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

[A case or Leber hereditary optic neuropathy (LHON): differential diagnosis with post inflammatory atrophy of nerve II using the mtDNA analysis]

[Comparison of the biological principles underlying the action of monoclonal antibody (mAb) and decoy receptor anti-VEGF agents--on the example of ranibizumab (anti-VEGF-A mAb) and aflibercept (decoy VEGFR1-2 receptor)].

[Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype]

[Mitochondrial diseases 2018]

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.