Publikace
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients2021 | 2. lékařská fakulta
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME2020 | 2. lékařská fakulta
- Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations2019 | 2. lékařská fakulta
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | 2. lékařská fakulta
- Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene2016 | 2. lékařská fakulta
- COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report2016 | 2. lékařská fakulta
- Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site2016 | 2. lékařská fakulta
- Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom2015 | 2. lékařská fakulta
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | 2. lékařská fakulta
- Hereditární neuropatie +12015 | 2. lékařská fakulta
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