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Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R. Smigiel R, et al. Among authors: walczak a. Eur J Hum Genet. 2018 Oct;26(10):1502-1511. doi: 10.1038/s41431-018-0179-2. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899372 Free PMC article.
Inverse association between obesity predisposing FTO genotype and completed suicide.
Chojnicka I, Fudalej S, Walczak A, Wasilewska K, Fudalej M, Stawiński P, Strawa K, Pawlak A, Wojnar M, Krajewski P, Płoski R. Chojnicka I, et al. Among authors: walczak a. PLoS One. 2014 Sep 29;9(9):e108900. doi: 10.1371/journal.pone.0108900. eCollection 2014. PLoS One. 2014. PMID: 25265168 Free PMC article.
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Among authors: walczak a. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R. Lenk GM, et al. Among authors: walczak a. Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9. Am J Hum Genet. 2016. PMID: 27292112 Free PMC article.
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
Szczałuba K, Szymańska K, Rydzanicz M, Ciara E, Walczak A, Piekutowska-Abramczuk D, Kosińska J, Jacoszek A, Czerska K, Biernacka A, Laure-Kamionowska M, Gasperowicz P, Pronicka E, Płoski R. Szczałuba K, et al. Among authors: walczak a. Clin Genet. 2018 May;93(5):1107-1108. doi: 10.1111/cge.13133. Epub 2017 Dec 15. Clin Genet. 2018. PMID: 29243232
393 results