Author Seeman, Pavel
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2007 | Journal Article
Hereditary spastic paraplegia 3A associated with axonal neuropathy
Ivanova, N.; Claeys, K. G.; Deconinck, T.; Litvinenko, I.; Jordanova, A.; Auer-Grumbach, M. & Haberlova, J. et al. (2007)
ARCHIVES OF NEUROLOGY, 64(5) pp. 706-713. DOI: https://doi.org/10.1001/archneur.64.5.706
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2013 | Journal Article
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
Rudnik-Schoeneborn, S.; Senderek, J.; Jen, J. C.; Houge, G.; Seeman, P.; Puchmajerova, A. & Graul-Neumann, L. et al. (2013)
Neurology, 80(5) pp. 438-446. DOI: https://doi.org/10.1212/WNL.0b013e31827f0f66
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2014 | Journal Article
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
Mannil, M. ; Solari, A.; Leha, A. ; Pelayo-Negro, A. L.; Berciano, J.; Schlotter-Weigel, B. & Walter, M. C. et al. (2014)
Neuromuscular Disorders, 24(11) pp. 1003-1017. DOI: https://doi.org/10.1016/j.nmd.2014.06.431
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2015 | Journal Article |
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
Beck, C. R.; Carvalho, C. M. B.; Banser, L.; Gambin, T.; Stubbolo, D.; Yuan, B. O. & Sperle, K. et al. (2015)
PLoS Genetics, 11(3) art. e1005050. DOI: https://doi.org/10.1371/journal.pgen.1005050
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2017 | Journal Article
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
Fledrich, R.; Mannil, M.; Leha, A.; Ehbrecht, C.; Solari, A.; Pelayo-Negro, A. L & Berciano, J. et al. (2017)
Journal of Neurology, Neurosurgery & Psychiatry, 88(11) pp. 941-952. DOI: https://doi.org/10.1136/jnnp-2017-315721
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