All Stories

  1. COX6A1mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report

    Article • Clinical Genetics, August 2015, Wiley

    Dr Petra Lassuthova

  2. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

    Article • Brain, June 2015, Oxford University Press (OUP)

    Dr Petra Lassuthova

  3. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

    Article • Neurogenetics, October 2014, Springer Science + Business Media

    Dr Petra Lassuthova

  4. Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

    Article • Orphanet Journal of Rare Diseases, January 2014, Springer Science + Business Media

    Dr Petra Lassuthova

  5. Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy

    Article • Brain, January 2013, Oxford University Press (OUP)

    Dr Petra Lassuthova

  6. Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in theSH3TC2Gene

    Article • Journal of Neurogenetics, September 2012, Taylor & Francis

    Dr Petra Lassuthova

  7. Monitoring of methylation changes in 9p21 region in patients with myelodysplastic syndromes and acute myeloid leukemia

    Article • Neoplasma, January 2012, AEPress, s.r.o.

    Dr Petra Lassuthova

  8. High frequency of SH3TC2 mutations in Czech HMSN I patients

    Article • Clinical Genetics, March 2011, Wiley

    Dr Petra Lassuthova

  9. Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene

    Article • Pediatric Neurology, August 2009, Elsevier

    Dr Petra Lassuthova

  10. Mutations in the LMNA gene do not cause axonal CMT in Czech patients

    Article • Journal of Human Genetics, May 2009, Nature

    Dr Petra Lassuthova