Dorota Hoffman‐Zacharska
Instytut Matki i Dziecka(PL)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Mitochondrial Function and Pathology
Most-Cited Works
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome(2013)220 cited
- → Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy(2016)197 cited
- → Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications(2021)140 cited
- → Phenotypic spectrum of GABRA1(2016)138 cited