List of works - Andrzej Kochański

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

scientific article published on 02 March 2011

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies

scientific article published on 15 October 2009

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

scientific article published on June 2004

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

scientific article

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease

scientific article published on 01 February 2001

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

scientific article

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

scientific article

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

scientific article published in March 2004

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

scientific article published on 11 March 2008

A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

scientific article published on 22 October 2014

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene

scientific article published on 01 June 2005

Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

scientific article published on 28 September 2011

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

scientific article published on October 2007

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

scientific article published in January 2010

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

scientific article

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

scientific article

Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism

scientific article published on 01 January 2018

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

scientific article published on 30 October 2014

DNA damage induced by lithotripter generated shock waves: short report

scientific article published on 01 January 2001

De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease

scientific article published on 01 January 2004

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

scientific article published on 3 November 2010

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

scientific article published in June 2006

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

scientific article

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.

scientific article published in January 2015

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

scientific article published on January 2016

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

scientific article published in September 2003

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

scientific article published on January 2006

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

scientific article published on September 2006

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

scientific article published on 16 March 2010

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

scientific article published on 01 September 2007

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

scientific article published on 01 February 2005

Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

scientific article

Molecular genetics studies in Polish Charcot-Marie-Tooth families.

scientific article

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

scientific article published in Scientific Reports

Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies.

scientific article published on January 2015

Mutation screening of Charcot-Marie-Tooth patients in Poland

scientific article published on 01 September 1999

Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.

scientific article

O-5. A wide spectrum of phenotypes in recessive forms of Charcot-Marie-Tooth disorders with known and unknown etiology in Poland.

scientific article published in July 2009

Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies.

scientific article published in January 2015

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

scientific article (publication date: April 2005)

Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)

scientific article published on 01 January 2009

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.

scientific article published in January 2004

Somatic mosaicism in Charcot-Marie-Tooth type X disease

scientific article published on 01 January 2004

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.

scientific article

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

scientific article

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

scientific article

The attitudes of psychiatrists toward people suffering from mental illnesses.

scientific article published on 26 February 2017

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

scientific article published on 08 August 2014

The impact of assisted reproductive technologies on the genome and epigenome of the newborn.

scientific article

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.

scientific article published on 14 September 2011

Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion

scientific article published on 01 January 1999

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.

scientific article published on January 2016

[Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].

scientific article

[Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search for the molecular diagnostics model]

scientific article published on 01 April 2009

[Charcot-Marie-Tooth disorders: past, today and tomorrow]

scientific article published on 01 July 2006

[Genotype-phenotype correlation in hereditary motor-sensory neuropathy type IA associated with duplication in chromosome 17p11.2-12]

scientific article published on 01 November 2000

[Mitofusin 2 as a crucial peripheral nervous system protein and a common regulator of cell metabolism]

scientific article published in January 2011

[Molecular pathogenesis of hereditary motor and sensory neuropathy].

scientific article published in January 2011

[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]

scientific article published on 01 July 2007

[Pathogenic mutation or polymorphism? (How to find criteria)]

scientific article published on 01 January 2006

[The role of molecular genetics in diagnosis of hereditary motor-sensory neuropathy]

scientific article published on 01 September 2000

[Therapeutic perspective in hereditary polyneuropathies]

scientific article published on 01 December 2018

List of works by Andrzej Kochański

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene

Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

DNA damage induced by lithotripter generated shock waves: short report

De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

Molecular genetics studies in Polish Charcot-Marie-Tooth families.

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies.

Mutation screening of Charcot-Marie-Tooth patients in Poland

Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.

O-5. A wide spectrum of phenotypes in recessive forms of Charcot-Marie-Tooth disorders with known and unknown etiology in Poland.

Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies.

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.

Somatic mosaicism in Charcot-Marie-Tooth type X disease

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

The attitudes of psychiatrists toward people suffering from mental illnesses.

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

The impact of assisted reproductive technologies on the genome and epigenome of the newborn.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.

Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.

[Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].

[Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search for the molecular diagnostics model]

[Charcot-Marie-Tooth disorders: past, today and tomorrow]

[Genotype-phenotype correlation in hereditary motor-sensory neuropathy type IA associated with duplication in chromosome 17p11.2-12]

[Mitofusin 2 as a crucial peripheral nervous system protein and a common regulator of cell metabolism]

[Molecular pathogenesis of hereditary motor and sensory neuropathy].

[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]

[Pathogenic mutation or polymorphism? (How to find criteria)]

[The role of molecular genetics in diagnosis of hereditary motor-sensory neuropathy]

[Therapeutic perspective in hereditary polyneuropathies]