Publikace
- 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
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Spinal deformities in hereditary motor and sensory neuropathy - A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients2007 | 2. lékařská fakulta
- Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes2006 | 2. lékařská fakulta
- 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
- Charcot-Marie-Tooth 1 (CMT1) a tomakulózní neuropatie (HNPP) - průkaz specifických DNA duplikací a delecí v oblasti 17p11.2-12 pomocí sady dinukleotidových markerů1999 | 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
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