Dorota Hoffman-Zacharska

12PUBLICATIONS
40CO-AUTHORS
Haematological tumoursNeurology and neuromuscular diseasesNeurogeneticsFamily careEpigenetics (incl. genome methylation and epigenomics)
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Publications (12)

|May 27, 2026
Clinical Phenotype Comparison in Polish Patient Cohorts with and Without Molecular Diagnosis of Dystonia.

|Jun 26, 2025
Clinical and Genetic Characteristics of Parkinson's Disease Patients with Substantia Nigra Hyperechogenicity.

Łukasz Milanowski, Piotr Szukało, Małgorzata Kowalska

|Aug 10, 2024
The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17.

Dorota Hoffman-Zacharska, Anna Sulek

|Jun 27, 2024
How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives.

Anita Zielińska, Urszula Skarżyńska, Paulina Górka-Skoczylas

|May 24, 2024
SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.

Elżbieta Stawicka, Anita Zielińska, Paulina Górka-Skoczylas

|Feb 10, 2024
Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.

Grzegorz Witkowski, Bartlomiej Szulczyk, Ewa Nurowska

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Frequent Collaborators

4 joint publications

Lukasz Milanowski

3 joint publications

Paulina Gorka-Skoczylas

2 joint publications

Dariusz Koziorowski

2 joint publications

Zbigniew K Wszolek