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Nerve
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doc. MUDr. Petra Laššuthová Ph.D.
Academic staff at Second Faculty of Medicine
62 publications
Publications
publication
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
2020 |
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
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
2018 |
Second Faculty of Medicine
publication
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
2018 |
Second Faculty of Medicine
publication
Hereditary motor neuropathies
2016 |
Second Faculty of Medicine
publication
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
2015 |
Second Faculty of Medicine
publication
Hereditary neuropathy
+1
2015 |
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
publication
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
2024 |
Second Faculty of Medicine, Central Library of Charles University
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
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