List of works - Dagmara Kabzińska

A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases

scientific article published on 16 June 2020

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

scientific article published on December 2013

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 Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease

scientific article

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

scientific article

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

scientific article

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 severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment

scientific article published on 01 January 2004

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

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene

scientific article published in March 2004

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

scientific article published on 01 March 2016

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

scientific article

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

scientific article published on 30 October 2014

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

scientific article published on 01 January 2004

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 type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

scientific article

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

scientific article published on 09 April 2014

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

scientific article published in January 2015

Genetic spectrum of hereditary neuropathies with onset in the first year of life

scientific article

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

Mitochondrial DNA in polish centenarians

scientific article published on 01 January 2004

Mitofusin 2 expression dominates over mitofusin 1 exclusively in mouse dorsal root ganglia - a possible explanation for peripheral nervous system involvement in Charcot-Marie-Tooth 2A.

scientific article published on January 2014

Molecular genetic analysis of the GJB1 gene: a study of six mutations

scientific article published in January 2004

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

scientific article published on January 2015

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model

scientific article published on 14 March 2020

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

scientific article published in January 2015

Phylogenetic Relatedness within the Internally Brooding Sea Anemones from the Arctic-Boreal Region

scientific article published on 22 January 2021

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 Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

scientific article published on 20 October 2015

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

scientific article

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

scientific article published on 03 November 2020

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

[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

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report]

scientific article published on 01 March 2004

[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

[Therapeutic perspective in hereditary polyneuropathies]

scientific article published on 01 December 2018

List of works by Dagmara Kabzińska

A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

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 Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease

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

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

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

A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment

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

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

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

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

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

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 type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

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

Genetic spectrum of hereditary neuropathies with onset in the first year of life

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

Mitochondrial DNA in polish centenarians

Mitofusin 2 expression dominates over mitofusin 1 exclusively in mouse dorsal root ganglia - a possible explanation for peripheral nervous system involvement in Charcot-Marie-Tooth 2A.

Molecular genetic analysis of the GJB1 gene: a study of six mutations

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

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network ⬇️

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model

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

Phylogenetic Relatedness within the Internally Brooding Sea Anemones from the Arctic-Boreal Region

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 Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

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

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

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.

[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]

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report]

[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]

[Therapeutic perspective in hereditary polyneuropathies]