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mutation
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MUDr. Lenka Pospíšilová
External person at First Faculty of Medicine
22 publications
Publications
publication
Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease
2014 |
First Faculty of Medicine
publication
Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms
2012 |
First Faculty of Medicine
publication
Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
2011 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease
2010 |
First Faculty of Medicine
publication
Cardiac involvement in Wilson disease
2002 |
First Faculty of Medicine
publication
Mutations in genes coding for ATP7A and ATP7B (causing Mankes and Wilson disease) in Czech Republic
Publication without faculty affiliation
publication
Clinical expression of mutations in genes coding for copper transporting ATP7A and ATP7B
Publication without faculty affiliation
publication
Mutation analysis of ATP7A and ATP7B
Publication without faculty affiliation
publication
Mutation Screening in the ATP7A and ATP7B Genes in Czech patients with Menkes Disease and Wilson Disease
Publication without faculty affiliation
publication
Prevalence of the three hereditary hemochromatosis mutations in the Czech patients with multiple sclerosis
Publication without faculty affiliation
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