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Inherited peripheral neuropathies
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Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
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
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
2016 |
Second Faculty of Medicine
publication
Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations
2020 |
Second Faculty of Medicine
publication
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
2017 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport