Krystyna Szymanska
Warsaw, MZ, Poland
Last Updated: 09/26/2026
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Found 39 publications
Molecular heterogeneity in AADC deficiency: Variant-dependent effects on AADC activity.
Journal: Molecular genetics and metabolism
Published: April 15, 2026
Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study.
Journal: Journal of clinical medicine
Published: March 03, 2026
Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.
Journal: Children (Basel, Switzerland)
Published: February 15, 2026
Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series.
Journal: Brain sciences
Published: February 10, 2026
A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.
Journal: Molecular genetics and metabolism
Published: November 19, 2025
Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients.
Journal: Journal of clinical medicine
Published: July 13, 2025
Fatal Fulminant Epstein-Barr Virus (EBV) Encephalitis in Immunocompetent 5.5-Year-Old Girl-A Case Report with the Review of Diagnostic and Management Dilemmas.
Journal: Biomedicines
Published: November 28, 2024
Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.
Journal: Frontiers in genetics
Published: March 17, 2024
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: October 10, 2023
A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody.
Journal: Transfusion
Published: March 14, 2022
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Journal: Cellular and molecular life sciences : CMLS
Published: February 25, 2022
Authors' response to Dr Finsterer's comment "Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis" (THEIJID-D-22-00008).
Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
Published: February 07, 2022
Last Updated: 09/26/2026