Study programme
Classes
Publications
- Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene2013 | First Faculty of Medicine, Second Faculty of Medicine
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | Second Faculty of Medicine
- Congenital myopathies +12012 | Second Faculty of Medicine
- Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports2010 | Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Dilated cardiomyopathy and mild myopathic syndrome in a 40-year-old man2010 | Second Faculty of Medicine
- Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports2010 | Second Faculty of Medicine
- Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report2009 | Second Faculty of Medicine
- Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype2008 | Second Faculty of Medicine
- Hereditary spastic paraplegia 3A associated with axonal neuropathy2007 | Second Faculty of Medicine
Loading network view...