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

Clinical genetics, 2018-11, Vol.94 (5), p.450-456

2018

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Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

Clinical genetics, 2016-10, Vol.90 (4), p.293-304

2016

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

Clinical genetics, 2015-09, Vol.88 (3), p.297-299

2015

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Not only Dravet Syndrome – How broad the phenotypic spectrum of SCN1A mutations may be?

European journal of paediatric neurology, 2017-06, Vol.21, p.e54-e54

2017

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3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY

Parkinsonism & related disorders, 2012, Vol.18, p.S188-S189

2012

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3.023 FREQUENCY OF THE MUTATIONS IN THE PARK2, PINK1 AND DJ-1 GENES IN POLISH PATIENTS WITH THE EARLY-ONSET PARKINSON DISEASE

Parkinsonism & related disorders, 2012, Vol.18, p.S174-S175

2012

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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.568-580

2016

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

Dementia and geriatric cognitive disorders, 2006-01, Vol.22 (1), p.1-7

2006

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P3.098 Molecular analysis PARK2 and DJ-1 mutations in Polish early onset Parkinson's disease patients

Parkinsonism & related disorders, 2009, Vol.15, p.S173-S173

2009

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Severe myoclonic epilepsy in infancy (SMEI or Dravet Syndrome) confirmed molecularly – a case report

European journal of paediatric neurology, 2008, Vol.12, p.S35-S36

2008

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Pelizaeus – Merzbacher Disease – the same molecular defect but different clinical picture

European journal of paediatric neurology, 2008, Vol.12, p.S47-S47

2008

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2.107 Analysis of the PARK2 mutations in Polish early onset Parkinson's disease patients

Parkinsonism & related disorders, 2007, Vol.13, p.S93-S94

2007

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Rare neurodegenerative and neurometabolic diseases with white matter involvement

European journal of paediatric neurology, 2008, Vol.12, p.S74-S74

2008

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Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Folia neuropathologica, 2016-01, Vol.54 (1), p.59-65

2016

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SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6

American journal of human genetics, 2003-10, Vol.73 (4), p.972-974

2003

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PLA2G6-associated neurodegeneration in three different populations-case series

Parkinsonism & related disorders, 2023-08, Vol.113

2023

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

Neurologia i neurochirurgia polska, 2013, Vol.47 (4), p.319-324

2013

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Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

PloS one, 2023-10, Vol.18 (10), p.e0292180-e0292180

2023

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The heterozygous mutation of LRRK2 gene – p.Asp1437His in Polish family

Folia neuropathologica, 2018-01, Vol.56 (3), p.253

2018

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

Journal of applied genetics, 2005, Vol.46 (2), p.237-239

2005

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

Journal of applied genetics, 2004, Vol.45 (1), p.101-105

2004

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P25 – 2072 Diagnostic clues and difficulties in Dravet syndrome starting from 34 Dravet patients analysis within Romanian Research Group for Rare Genetic Epilepsies

European journal of paediatric neurology, 2013-09, Vol.17, p.S61-S61

2013

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P228 – 2031 Preliminary results of the study of Rett syndrome phenotype in 27 patients from a Romanian pediatric neurology clinic

European journal of paediatric neurology, 2013-09, Vol.17, p.S116-S116

2013

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

Journal of molecular evolution, 1991-08, Vol.33 (2), p.175-178

1991

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

Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

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

Not only Dravet Syndrome – How broad the phenotypic spectrum of SCN1A mutations may be?

3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY

3.023 FREQUENCY OF THE MUTATIONS IN THE PARK2, PINK1 AND DJ-1 GENES IN POLISH PATIENTS WITH THE EARLY-ONSET PARKINSON DISEASE

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

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

P3.098 Molecular analysis PARK2 and DJ-1 mutations in Polish early onset Parkinson's disease patients

Severe myoclonic epilepsy in infancy (SMEI or Dravet Syndrome) confirmed molecularly – a case report

Pelizaeus – Merzbacher Disease – the same molecular defect but different clinical picture

2.107 Analysis of the PARK2 mutations in Polish early onset Parkinson's disease patients

Rare neurodegenerative and neurometabolic diseases with white matter involvement

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6

PLA2G6-associated neurodegeneration in three different populations-case series

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

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

The heterozygous mutation of LRRK2 gene – p.Asp1437His in Polish family

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

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

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

P25 – 2072 Diagnostic clues and difficulties in Dravet syndrome starting from 34 Dravet patients analysis within Romanian Research Group for Rare Genetic Epilepsies

P228 – 2031 Preliminary results of the study of Rett syndrome phenotype in 27 patients from a Romanian pediatric neurology clinic

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

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