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marie-tooth-disease
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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
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
2018 |
Second Faculty of Medicine
publication
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene
2016 |
Second Faculty of Medicine
publication
Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site
2016 |
Second Faculty of Medicine
publication
Hereditary motor neuropathies
2016 |
Second Faculty of Medicine
publication
Hereditary neuropathy
+1
2015 |
Second Faculty of Medicine
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
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