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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Pavel Seeman

Department of Child Neurology

Second School of Medicine

Charles University Prague

Praha 5

Czech Republic


Name/email consistency: high



  • Department of Child Neurology, Second School of Medicine, Charles University Prague, Praha 5, Czech Republic. 1999 - 2005


  1. Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population. Seeman, P., Bendová, O., Rasková, D., Malíková, M., Groh, D., Kabelka, Z. Ann. Hum. Genet. (2005) [Pubmed]
  2. Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. Seeman, P., Mazanec, R., Huehne, K., Suslíková, P., Keller, O., Rautenstrauss, B. Neurology (2004) [Pubmed]
  3. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene. Seeman, P., Paderova, K., Benes, V., Sistermans, E.A. Int. J. Mol. Med. (2002) [Pubmed]
  4. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. Seeman, P., Mazanec, R., Ctvrtecková, M., Smilková, D. Int. J. Mol. Med. (2001) [Pubmed]
  5. Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. Seeman, P., Mazanec, R., Zidar, J., Hrusáková, S., Ctvrtecková, M., Rautenstrauss, B. Int. J. Mol. Med. (2000) [Pubmed]
  6. Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype. Seeman, P., Mazanec, R., Marikova, T., Rautenstrauss, B. Ann. N. Y. Acad. Sci. (1999) [Pubmed]
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