Publikace
- CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel2013 | 2. lékařská fakulta
- Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family2012 | 2. lékařská fakulta
- Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy2011 | 2. lékařská fakulta
- GDAP1 mutations in Czech families with early-onset CMT2007 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | 2. lékařská fakulta
- Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing2001 | 2. lékařská fakulta
- Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies2023 | 2. lékařská fakulta, Ústřední knihovna
- Genetic findings in Czech patients with limb girdle muscular dystrophy2023 | 2. lékařská fakulta, 1. lékařská fakulta
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | 2. lékařská fakulta
- Thermal quantitative sensory testing as a screening tool for cardiac autonomic neuropathy in patients with diabetes mellitus2022 | 2. lékařská fakulta, Ústřední knihovna
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