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doc. MUDr. Petra Laššuthová Ph.D.
Academic staff at Second Faculty of Medicine
62 publications
Publications
publication
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 |
Second Faculty of Medicine
publication
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
2021 |
Second Faculty of Medicine
publication
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
Second Faculty of Medicine
publication
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
2019 |
Second Faculty of Medicine
publication
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2019 |
Second Faculty of Medicine
publication
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
2019 |
Second Faculty of Medicine
publication
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
2019 |
Second Faculty of Medicine
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
Second Faculty of Medicine
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