List of works - Dorota Hoffman-Zacharska

3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY

scientific article published in 2012

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

scientific article published on 13 November 2014

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

scientific article published on 23 July 2012

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

scientific article published on 01 January 2005

Clinical and genetic study of juvenile form of Huntington's disease

scientific article published in March 2002

Clinical picture of spinocerebellar ataxia type I (SCA1)

scientific article published in November 2001

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

scientific article

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.

scientific article published on 25 April 2006

Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation

scientific article published on 12 September 2016

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

scientific article published on 10 September 2014

Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene

scientific article published on 01 January 1997

Expanding the phenotype associated with missense mutations of the ARX gene

scientific article published on 08 May 2013

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene

article

Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

scientific article published in November 2001

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.

scientific article

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

scientific article published on 20 June 2015

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

scientific article published on 18 July 2006

Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report

scientific article published on October 2014

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genomic instability in the PARK2 locus is associated with Parkinson's disease

scientific article

Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

scientific article published on 25 August 2021

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review

scientific article published on January 2015

Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination

scientific article

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

scientific article published on 28 May 2016

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

scientific article

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene

scientific article published on 29 July 2014

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.

scientific article published on 22 July 2009

Molecular therapeutic strategies for Huntington's disease

scientific article published in January 2015

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

scientific article

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype

scientific article published on 14 December 2012

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

scientific article

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

scientific article published on 9 December 2014

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

scientific article published on 12 April 2019

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.

scientific article

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

scientific article published on 01 January 2016

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

scientific article

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.

scientific article

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

scientific article

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

scientific article published on October 2003

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

scientific article published on 08 June 2020

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

scientific article published in May 2008

Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation

scientific article published in July 2005

Structure and evolution of 5S rRNA genes and pseudogenes in the genus Aspergillus

scientific article

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

scientific article published on 21 December 2005

The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?

scientific article published on 28 December 2019

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

scientific article published on 09 August 2018

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017

scientific article published in January 2017

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

scientific article published on 01 April 2020

[Autosomal dominant spinocerebellar ataxia]

scientific article published on 01 May 1999

[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy]

scientific article published on 01 November 1999

[Juvenile form of Huntington's disease--diagnostic problems]

scientific article published on 01 January 1999

List of works by Dorota Hoffman-Zacharska

3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

Clinical and genetic study of juvenile form of Huntington's disease

Clinical picture of spinocerebellar ataxia type I (SCA1)

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.

Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene

Expanding the phenotype associated with missense mutations of the ARX gene

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene

Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report

Genetic heterogeneity in infantile spasms

Genomic instability in the PARK2 locus is associated with Parkinson's disease

Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review

Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.

Molecular therapeutic strategies for Huntington's disease

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation

Structure and evolution of 5S rRNA genes and pseudogenes in the genus Aspergillus

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease

The spectrum of intermediate SCN8A-related epilepsy

Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

[Autosomal dominant spinocerebellar ataxia]

[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy]

[Juvenile form of Huntington's disease--diagnostic problems]