Kuśmierska K - Search Results

1

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.

2

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.

3

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

4

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

5

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

6

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.

7

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.

Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stepień T. Mierzewska H, et al. Among authors: kusmierska k. Folia Neuropathol. 2009;47(4):314-20. Folia Neuropathol. 2009. PMID: 20054783 Free article.

8

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J. Kusmierska K, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S5-10. doi: 10.1007/s10545-008-1009-4. Epub 2009 Jan 7. J Inherit Metab Dis. 2009. PMID: 19130291

9

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

10

Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

Mierzewska H, Schmidt-Sidor B, Lewandowska E, Grajkowska W, Kuśmierska K, Jurkiewicz E, Stepień T, Rafałowska J. Mierzewska H, et al. Among authors: kusmierska k. Folia Neuropathol. 2008;46(1):81-91. Folia Neuropathol. 2008. PMID: 18368630 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

22 results

Search Page