D. Hoffman-Zacharska

发表

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Michael R. Johnson, I. Scheffer, H. Mefford, 2014, American journal of human genetics.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Ethan M. Goldberg, Christopher H. Thompson, C. H. Thompson, 2020, Annals of neurology.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

Phenotypic spectrum of GABRA1

P. Striano, H. Lerche, F. Rosenow, 2016, Neurology.

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

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

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

Holger Lerche, Renzo Guerrini, Christel Depienne, 2013, American journal of human genetics.

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

M. Rodo, D. Hoffman-Zacharska, M. Bednarska-Makaruk, 2001, European Journal of Human Genetics.

Connatal Pelizaeus-Merzbacher disease caused by Xq21-22 submicroscopic duplication including the PLP1 gene - case report

K. Derwinska, D. Hoffman-Zacharska, H. Mierzewska, 2013 .

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

J. Poznański, D. Hoffman-Zacharska, T. Kmieć, 2013, Brain and Development.

Familial 15q11.2 Micro deletions are not Fully Penetrant in Two Cases with Hereditary Spastic Paraplegia and Dysmorphic Features

D. Hoffman-Zacharska, J. Zaremba, A. Sulek, 2014 .

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

P. Janik, D. Hoffman-Zacharska, J. Sławek, 2013, Neurologia i neurochirurgia polska.

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

E. Obersztyn, A. Charzewska, A. Dufke, 2018, Clinical genetics.

Genetics of Parkinson's disease in the Polish population.

Z. Wszolek, O. Ross, D. Hoffman-Zacharska, 2021, Neurologia i neurochirurgia polska.

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

F. Rivier, C. Depienne, P. Berquin, 2011, Human mutation.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

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

A. Charzewska, T. Gambin, L. Królicki, 2018, Movement disorders : official journal of the Movement Disorder Society.

PLA2G6-associated neurodegeneration in four different populations-case series and literature review.

Babylakshmi Muthusamy, R. Uitti, Z. Wszolek, 2022, Parkinsonism & related disorders.

Genetic heterogeneity in infantile spasms

H. Mefford, P. Striano, J. Serratosa, 2019, Epilepsy Research.

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

P. Bauer, P. Ribai, M. Pandolfo, 2006, Neurogenetics.

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

D. Hoffman-Zacharska, E. Bartnik, M. Gniadkowski, 1991, Journal of Molecular Evolution.

Structure and evolution of 5S rRNA genes and pseudogenes in the genusAspergillus

D. Hoffman-Zacharska, E. Bartnik, M. Gniadkowski, 1991, Journal of Molecular Evolution.

Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis

M. Barcikowska, R. Uitti, J. Siuda, 2022, International journal of molecular sciences.

Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy

D. Dickson, R. Uitti, M. Heckman, 2021, Clinical Autonomic Research.

Neonatal Seizures do not Exclude Dravet Syndrome Diagnosis

D. Hoffman-Zacharska, P. Gorka-Skoczylas, D. Antczak-Marach, 2016 .

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Pediatric CIDP: Diagnosis and Management. A Single-Center Experience

D. Hoffman-Zacharska, M. Lipowska, M. Figlerowicz, 2021, Frontiers in Neurology.

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease

J. Siuda, D. Hoffman-Zacharska, D. Koziorowski, 2022, Frontiers in Neuroscience.

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

D. Hoffman-Zacharska, A. Kostera-Pruszczyk, A. Potulska‐Chromik, 2017, Neurologia i neurochirurgia polska.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

Opis przypadku Benign Myoclonic Epilepsy of Infancy followed by Juvenile Myoclonic Epilepsy . Case report

D. Hoffman-Zacharska, E. Szczepanik, I. Terczyńska, 2013 .

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

D. Hoffman-Zacharska, B. Steinborn, M. Badura-Stronka, 2020, Epilepsy & Behavior.

Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies—Current Perspective and Future Therapies

D. Hoffman-Zacharska, V. Zayat, Roza Szlendak, 2022, Cells.

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

Anna Potulska-Chromik, Piotr Janik, Dariusz Koziorowski, 2013, Parkinsonism & related disorders.

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

D. Hoffman-Zacharska, D. Koziorowski, A. Friedman, 2019, Journal of Clinical Neuroscience.

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

D. Hoffman-Zacharska, H. Mierzewska, E. Szczepanik, 2013, Medycyna wieku rozwojowego.

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

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.

A. Rolfs, A. Dica, C. Iliescu, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

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.

D. Hoffman-Zacharska, E. Szczepanik, J. Bal, 2015, Neurologia i neurochirurgia polska.

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

D. Hoffman-Zacharska, D. Koziorowski, A. Friedman, 2014, Neurologia i neurochirurgia polska.

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

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

P. Janik, D. Hoffman-Zacharska, J. Sławek, 2010, Parkinsonism & related disorders.

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

D. Hoffman-Zacharska, J. Sławek, D. Koziorowski, 2015, Journal of Applied Genetics.

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

A. Charzewska, M. Smyk, D. Hoffman-Zacharska, 2015, Clinical genetics.

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

D. Hoffman-Zacharska, J. Sławek, D. Koziorowski, 2015, Journal of Applied Genetics.

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model

M. Smyk, L. Buzanska, D. Hoffman-Zacharska, 2023, Cells.

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

D. Hoffman-Zacharska, P. Górka-Skoczylas, 2017, Developmental period medicine.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

The spectrum of intermediate SCN8A‐related epilepsy

M. Hammer, P. Striano, A. Coppola, 2019, Epilepsia.

Expanding the phenotype associated with missense mutations of the ARX gene

E. Obersztyn, A. Charzewska, D. Hoffman-Zacharska, 2013, American journal of medical genetics. Part A.

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

E. Obersztyn, A. Charzewska, D. Hoffman-Zacharska, 2015, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

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.

D. Hoffman-Zacharska, J. Zaremba, W. Krysa, 2008, Neurologia i neurochirurgia polska.

Huntington Disease in a 9-Year-Old Boy: Clinical Course and Neuropathologic Examination

E. Marszał, D. Hoffman-Zacharska, D. Adamek, 2006, Journal of child neurology.

Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Poland — a Study on the 563 and 1311 Mutations of the G6PD Gene

J. Zimowski, D. Hoffman-Zacharska, J. Zaremba, 1997, European journal of human genetics : EJHG.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report

E. Obersztyn, D. Hoffman-Zacharska, A. Kutkowska-Kaźmierczak, 2019, Journal of Epileptology.

Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

A. Charzewska, J. Wierzba, D. Hoffman-Zacharska, 2016, Clinical genetics.

Differences in Risk Factors for Dementia with Neurodegenerative Traits and for Vascular Dementia

D. Ryglewicz, M. Rodo, D. Hoffman-Zacharska, 2006, Dementia and Geriatric Cognitive Disorders.

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

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

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.

D. Hoffman-Zacharska, E. Szczepanik, M. Jurek, 2015, Developmental period medicine.

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

A. Wierzbicka, K. Niedzielska, D. Hoffman-Zacharska, 2005, Neurologia i neurochirurgia polska.

[Clinical picture of spinocerebellar ataxia type I (SCA1)].

K. Niedzielska, D. Hoffman-Zacharska, T. Jakubowska, 2001, Neurologia i neurochirurgia polska.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

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

K. Połatyńska, Łukasz Kępczyński, D. Hoffman-Zacharska, 2016, Journal of Applied Genetics.

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

D. Hoffman-Zacharska, K. Duszyc, I. Terczyńska, 2015, Journal of Applied Genetics.

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

D. Hoffman-Zacharska, J. Zaremba, A. Sułek, 2003, American journal of human genetics.

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

D. Hoffman-Zacharska, J. Zaremba, M. Bednarska-Makaruk, 2004, Journal of applied genetics.

Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.

M. Barcikowska, J. Siuda, G. Opala, 2021, Parkinsonism & Related Disorders.

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

E. Jamroz, D. Hoffman-Zacharska, H. Mierzewska, 2016, Folia neuropathologica.

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

L. Królicki, D. Hoffman-Zacharska, A. Friedman, 2010, Neurologia i neurochirurgia polska.

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events following Immunization: A Descriptive Study of a Polish Case Series

A. Charzewska, B. Wojtaś, B. Gielniewski, 2023, International journal of molecular sciences.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

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

D. Hoffman-Zacharska, K. Duszyc, I. Terczyńska, 2014, Journal of Applied Genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

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

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

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.

A. Rolfs, A. Dica, C. Iliescu, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

P. Janik, D. Hoffman-Zacharska, J. Sławek, 2010, Parkinsonism & related disorders.

Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

A. Charzewska, J. Wierzba, D. Hoffman-Zacharska, 2016, Clinical genetics.

Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes

A. Charzewska, D. Hoffman-Zacharska, M. Dawidziuk, 2024, International journal of molecular sciences.

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

P. Bauer, M. Pandolfo, H. Lange, 2006, Human Genetics.

SCN1A—Characterization of the Gene’s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience

D. Hoffman-Zacharska, Karolina Kanabus, P. Górka-Skoczylas, 2024, Current issues in molecular biology.

Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders

D. Hoffman-Zacharska, Łukasz M Milanowski, J. Dulski, 2024, Journal of neural transmission.