Krystyna Szymańska

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Jennifer Friedman, Emmanuel Roze, José E. Abdenur et al. · Annals of Neurology · 2011 · 154 citations

Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i>

Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2010 · 96 citations

Mild Thinning, Neuropsychology, Psychiatric Disorders +20

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Guy M. Lenk, Krystyna Szymańska, Grażyna Dębska–Vielhaber et al. · The American Journal of Human Genetics · 2016 · 61 citations · Full text

Biallelic Mutations, Neurobiology Of Disease, Neurological Disorder +5

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Małgorzata Rydzanicz, Małgorzata Wachowska, Erik C. Cook et al. · European Journal of Human Genetics · 2018 · 40 citations · Full text

Signal Transduction, Protein Expression, Constitutive Enzyme Activation +6

Neuroleptic malignant syndrome in an adolescent with CYP2D6 deficiency

Agnieszka Butwicka, Krystyna Szymańska, Włodzimierz Retka et al. · European Journal of Pediatrics · 2013 · 31 citations · Full text