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Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L. Nicita F, et al. Among authors: gasperowicz p. J Neurol. 2019 Nov;266(11):2657-2664. doi: 10.1007/s00415-019-09466-y. Epub 2019 Jul 13. J Neurol. 2019. PMID: 31302745
Co-occurrence of Jalili syndrome and muscular overgrowth.
Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Among authors: gasperowicz p. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R. Pilch J, et al. Among authors: gasperowicz p. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2. Clin Genet. 2018. PMID: 29938792
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M. Jędrzejowska M, et al. Among authors: gasperowicz p. Muscle Nerve. 2019 Jan;59(1):129-133. doi: 10.1002/mus.26346. Epub 2018 Oct 26. Muscle Nerve. 2019. PMID: 30230566
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report.
Klaniewska M, Toczewski K, Rozensztrauch A, Bloch M, Dzielendziak A, Gasperowicz P, Slezak R, Ploski R, Rydzanicz M, Smigiel R, Patkowski D. Klaniewska M, et al. Among authors: gasperowicz p. Front Pediatr. 2021 Dec 2;9:783553. doi: 10.3389/fped.2021.783553. eCollection 2021. Front Pediatr. 2021. PMID: 34926353 Free PMC article.
30 results