Publications
- Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia2021 | Second Faculty of Medicine
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | Second Faculty of Medicine
- Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found2020 | Second Faculty of Medicine
- Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations2020 | Second Faculty of Medicine
- Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene2019 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene2016 | Second Faculty of Medicine
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | Second Faculty of Medicine
- Hereditary motor neuropathies2016 | Second Faculty of Medicine
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | Second Faculty of Medicine
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