Vyšetření genů DNM2, GARS, MORC2, TRPV4 a SOD1 u českých pacientů s dědičnou neuropatií axonálního typu
| Thesis title in Czech: | Vyšetření genů DNM2, GARS, MORC2, TRPV4 a SOD1 u českých pacientů s dědičnou neuropatií axonálního typu |
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| Thesis title in English: | Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type |
| Key words: | Charcot-Marie-Tooth neuropatie, DNM2, GARS, MORC2, TRPV4, SOD1, epilepsie, Sangerovo sekvenování, masivně paralelní sekvenování, celoexomové sekvenování |
| English key words: | Charcot-Marie-Tooth neuropathy, DNM2, GARS, MORC2, TRPV4, SOD1, epilepsy, Sanger sequencing, masivelly parallel sequencing, whole exome sequencing |
| Academic year of topic announcement: | 2013/2014 |
| Thesis type: | dissertation |
| Thesis language: | čeština |
| Department: | Department of Paediatric Neurology (13-441) |
| Supervisor: | doc. MUDr. Petra Laššuthová, Ph.D. |
| Author: | hidden - assigned and confirmed by the Study Dept. |
| Date of registration: | 19.08.2014 |
| Date of assignment: | 19.08.2014 |
| Confirmed by Study dept. on: | 19.08.2014 |
| Date and time of defence: | 24.01.2019 13:30 |
| Date of electronic submission: | 03.11.2018 |
| Date of submission of printed version: | 07.11.2018 |
| Date of proceeded defence: | 24.01.2019 |
| Opponents: | MUDr. Eva Vlčková, Ph.D. |
| RNDr. Peter Vasovčák, Ph.D. | |
| Advisors: | prof. MUDr. Pavel Seeman, Ph.D. |