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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
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
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
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
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
2018 |
Second Faculty of Medicine
publication
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond
2018 |
Second Faculty of Medicine
publication
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient
2017 |
Second Faculty of Medicine
publication
Hereditary motor neuropathies
2016 |
Second Faculty of Medicine
publication
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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