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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 1
2005 2
2006 1
2008 1
2009 2
2010 3
2012 2
2013 2
2014 4
2015 3
2016 4
2017 2
2018 6
2019 2
2020 1
2021 6
2022 5
2023 1
2024 1

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45 results

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Page 1
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Bayat A, Iavarone S, Miceli F, Jakobsen AV, Johannesen KM, Nikanorova M, Ploski R, Szymanska K, Flamini R, Cooper EC, Weckhuysen S, Taglialatela M, Møller RS. Bayat A, et al. Among authors: szymanska k. Neurotherapeutics. 2024 Jan;21(1):e00296. doi: 10.1016/j.neurot.2023.10.006. Epub 2023 Dec 19. Neurotherapeutics. 2024. PMID: 38241158 Free PMC article.
A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody.
Pelc-Kłopotowska M, Płoski R, Szczałuba K, Szymańska K, Rydzanicz M, Purchla-Szepioła S, Kolasińska K, Lewicka M, Thornton N, Crew VK, Orzińska A, Guz K. Pelc-Kłopotowska M, et al. Among authors: szymanska k. Transfusion. 2022 Sep;62(9):E43-E44. doi: 10.1111/trf.17040. Epub 2022 Aug 6. Transfusion. 2022. PMID: 35932201 No abstract available.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello G, Kusmierska K, Verbeek MM, Sykut-Cegielska J, Willemsen MAAP, Wevers RA, Szymańska K, Poznanski J, Drozak J, Wertheim-Tysarowska K, Rygiel AM, Bertoldi M. Bisello G, et al. Among authors: szymanska k. Cell Mol Life Sci. 2022 May 20;79(6):305. doi: 10.1007/s00018-022-04343-w. Cell Mol Life Sci. 2022. PMID: 35593933 Free PMC article.
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Badura-Stronka M, Śmigiel R, Rutkowska K, Szymańska K, Hirschfeld AS, Monkiewicz M, Kosińska J, Wolańska E, Rydzanicz M, Latos-Bieleńska A, Płoski R. Badura-Stronka M, et al. Among authors: szymanska k. Mol Genet Genomic Med. 2022 Apr;10(4):e1899. doi: 10.1002/mgg3.1899. Epub 2022 Mar 7. Mol Genet Genomic Med. 2022. PMID: 35255187 Free PMC article.
Authors' response to Dr Finsterer's comment "Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis" (THEIJID-D-22-00008).
Mierzewska-Schmidt M, Baranowski A, Szymanska K, Ciaston M, Kuchar E, Ploski R, Kosinska J, Pagowska-Klimek I. Mierzewska-Schmidt M, et al. Among authors: szymanska k. Int J Infect Dis. 2022 May;118:52-53. doi: 10.1016/j.ijid.2022.02.014. Epub 2022 Feb 10. Int J Infect Dis. 2022. PMID: 35151853 Free PMC article. No abstract available.
Spinal muscular atrophy: epidemiology and health burden in children - a Polish national healthcare database perspective before introduction of SMA-specific treatment.
Kostera-Pruszczyk A, Napiórkowski Ł, Szymańska K, Jędrzejczak J, Roszkowski M, Słowiński J, Frączek A, Ryglewicz D, Więckowska B. Kostera-Pruszczyk A, et al. Among authors: szymanska k. Neurol Neurochir Pol. 2021;55(5):479-484. doi: 10.5603/PJNNS.a2021.0074. Epub 2021 Oct 19. Neurol Neurochir Pol. 2021. PMID: 34664710 Free article.
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M, Rydzanicz M, Szymanska K, Pieniawska-Smiech K, Lewandowicz-Uszynska A, Chruszcz J, Benben L, Kuzior-Plawiak M, Szyld P, Jakubiak A, Szenborn L, Ploski R, Smigiel R. Biela M, et al. Among authors: szymanska k. Mol Genet Genomic Med. 2021 Sep;9(9):e1772. doi: 10.1002/mgg3.1772. Epub 2021 Aug 2. Mol Genet Genomic Med. 2021. PMID: 34342181 Free PMC article. Review.
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Among authors: szymanska k. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Ługowska A, Baydakova G, Ilyushkina A, Zakharova E, Mierzewska H, Szymańska K, Wierzba J, Kubalska J, Graban A, Kmieć T, Perkowska-Sumiła B, Tylki-Szymańska A, Bednarska-Makaruk M. Ługowska A, et al. Among authors: szymanska k. Diagnostics (Basel). 2021 Feb 16;11(2):320. doi: 10.3390/diagnostics11020320. Diagnostics (Basel). 2021. PMID: 33669444 Free PMC article.
45 results