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Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
Pediatr Neurol. 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003.
Pediatr Neurol. 2004.
PMID: 15033202
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 Jr, Sistermans EA.
Seeman P, et al. Among authors: paderova k.
Int J Mol Med. 2002 Feb;9(2):125-9.
Int J Mol Med. 2002.
PMID: 11786921
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Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P.
Laššuthová P, et al. Among authors: paderova k.
J Child Neurol. 2014 Jul;29(7):924-31. doi: 10.1177/0883073813492387. Epub 2013 Jun 14.
J Child Neurol. 2014.
PMID: 23771846
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Consensus statement: evaluation of new and existing therapeutics for pediatric multiple sclerosis.
Chitnis T, Tenembaum S, Banwell B, Krupp L, Pohl D, Rostasy K, Yeh EA, Bykova O, Wassmer E, Tardieu M, Kornberg A, Ghezzi A; International Pediatric Multiple Sclerosis Study Group.
Chitnis T, et al.
Mult Scler. 2012 Jan;18(1):116-27. doi: 10.1177/1352458511430704. Epub 2011 Dec 6.
Mult Scler. 2012.
PMID: 22146610
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