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	1.	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. [electronic resource] by Seeman, Pavel Paderova, Katerina Benes, Vladimir Sistermans, Erik A Producer: 20020219 In: International journal of molecular medicine vol. 9 Availability: No items available. Save to lists Add to cart (remove)
	2.	Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. [electronic resource] by Seeman, Pavel Gebertová, Katerina Paderová, Katerina Sperling, Karl Seemanová, Eva Producer: 20040803 In: Pediatric neurology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease. [electronic resource] by Laššuthová, Petra Žaliová, Markéta Inoue, Ken Haberlová, Jana Sixtová, Klára Sakmaryová, Iva Paděrová, Kateřina Mazanec, Radim Zámečník, Josef Šišková, Dana Garbern, Jim Seeman, Pavel Producer: 20151105 In: Journal of child neurology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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