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Serum amino acid profile in patients with Parkinson's disease.

Figura M, Kuśmierska K, Bucior E, Szlufik S, Koziorowski D, Jamrozik Z, Janik P. Figura M, et al. Among authors: kusmierska k. PLoS One. 2018 Jan 29;13(1):e0191670. doi: 10.1371/journal.pone.0191670. eCollection 2018. PLoS One. 2018. PMID: 29377959 Free PMC article.

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Clinico-pathological correlation in case of BRAT1 mutation.

Szymańska K, Laure-Kamionowska M, Szczałuba K, Koppolu A, Furmanek M, Kuśmierska K, Boniel S, Płoski R, Rydzanicz M. Szymańska K, et al. Among authors: kusmierska k. Folia Neuropathol. 2018;56(4):362-371. doi: 10.5114/fn.2018.80870. Folia Neuropathol. 2018. PMID: 30786674 Free article.

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Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene.

Jezela-Stanek A, Blaz W, Gora A, Bochenska M, Kusmierska K, Sykut-Cegielska J. Jezela-Stanek A, et al. Among authors: kusmierska k. Diagnostics (Basel). 2020 Oct 14;10(10):821. doi: 10.3390/diagnostics10100821. Diagnostics (Basel). 2020. PMID: 33066491 Free PMC article.

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[Feto-placental blood flow--practical remarks].

Rytlewski K, Kuśmierska K, Howczak J. Rytlewski K, et al. Among authors: kusmierska k. Przegl Lek. 2009;66(7):394-402. Przegl Lek. 2009. PMID: 20043583 Review. Polish.

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Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.

Szymańska K, Kuśmierska K, Demkow U. Szymańska K, et al. Among authors: kusmierska k. Adv Exp Med Biol. 2015;837:1-8. doi: 10.1007/5584_2014_86. Adv Exp Med Biol. 2015. PMID: 25310959

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Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

Kuśmierska K, Szymańska K, Rokicki D, Kotulska K, Jóźwiak S, Sykut-Cegielska J, Mierzewska H, Szczepanik E, Pronicka E, Demkow U. Kuśmierska K, et al. Adv Exp Med Biol. 2016;878:73-82. doi: 10.1007/5584_2015_167. Adv Exp Med Biol. 2016. PMID: 26453071

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Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Among authors: kusmierska k. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443

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Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.

Szymańska K, Kuśmierska K, Nowacka M, Sykut-Cegielska J, Demkow U. Szymańska K, et al. Among authors: kusmierska k. Respir Physiol Neurobiol. 2015 Apr;209:124-32. doi: 10.1016/j.resp.2014.12.007. Epub 2014 Dec 13. Respir Physiol Neurobiol. 2015. PMID: 25514185

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The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

Szymańska K, Szczałuba K, Lugowska A, Obersztyn E, Radkowski M, Nowakowska BA, Kuśmierska K, Tryfon J, Demkow U. Szymańska K, et al. Among authors: kusmierska k. Biomed Res Int. 2014;2014:424796. doi: 10.1155/2014/424796. Epub 2014 May 13. Biomed Res Int. 2014. PMID: 24949445 Free PMC article.

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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: kusmierska 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.

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