Thesis supervisor: Hilda Rita Horváth
Location of studies (in Hungarian): PTE ÁOK Pécs, Szigeti u. 12. Abbreviation of location of studies: ÁOK
Description of the research topic:
Hereditary sensorimotor neuropathy, referred as Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuromuscular disorders. CMT and CMT related disorders are genetic neuropathies manifesting with a clinical continuum from predominantly motor through sensorimotor and predominantly sensory involvement. The pathophysiology based classification enables to differentiate between the demyelinating (CMT1) and axonal (CMT2) phenotype. The clinical diversity might be explained by an underlying genetic heterogeneity. As a result of the increasingly available diagnostic possibilities, such as panel screening of known causative genes and whole exome sequencing, more than 80 disease causing gene mutations have been already identified.
Number of students who can be accepted: 1
Deadline for application: 2024-05-16
2024. IV. 17. ODT ülés Az ODT következő ülésére 2024. június 14-én, pénteken 10.00 órakor kerül sor a Semmelweis Egyetem Szenátusi termében (Bp. Üllői út 26. I. emelet).
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