Vyšetření genů DNM2, GARS, MORC2, TRPV4 a SOD1 u českých pacientů s dědičnou neuropatií axonálního typu

• Název práce v češtině: Vyšetření genů DNM2, GARS, MORC2, TRPV4 a SOD1 u českých pacientů s dědičnou neuropatií axonálního typu
• Název v anglickém jazyce: Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type
• Klíčová slova: Charcot-Marie-Tooth neuropatie, DNM2, GARS, MORC2, TRPV4, SOD1, epilepsie, Sangerovo sekvenování, masivně paralelní sekvenování, celoexomové sekvenování
• Klíčová slova anglicky: Charcot-Marie-Tooth neuropathy, DNM2, GARS, MORC2, TRPV4, SOD1, epilepsy, Sanger sequencing, masivelly parallel sequencing, whole exome sequencing
• Akademický rok vypsání: 2013/2014
• Typ práce: disertační práce
• Jazyk práce: čeština
• Ústav: Klinika dětské neurologie (13-441)
• Vedoucí / školitel: doc. MUDr. Petra Laššuthová, Ph.D.
• Řešitel: skrytý - zadáno a potvrzeno stud. odd.
• Datum přihlášení: 19.08.2014
• Datum zadání: 19.08.2014
• Datum potvrzení stud. oddělením: 19.08.2014
• Datum a čas obhajoby: 24.01.2019 00:00
• Datum odevzdání elektronické podoby: 03.11.2018
• Datum odevzdání tištěné podoby: 07.11.2018
• Datum proběhlé obhajoby: 24.01.2019
• Oponenti: MUDr. Eva Vlčková, Ph.D.
• Konzultanti: prof. MUDr. Pavel Seeman, Ph.D.

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