Radziwonik W - Search Results

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C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).

Radziwonik W, Elert-Dobkowska E, Tomczuk F, Wozniak A, Sobanska A, Stepniak I, Koziorowski D, Zaremba J, Sułek A. Radziwonik W, et al. Neurol Neurochir Pol. 2022;56(3):276-280. doi: 10.5603/PJNNS.a2022.0039. Epub 2022 Jun 6. Neurol Neurochir Pol. 2022. PMID: 35661131 Free article.

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.

Radziwonik W, Elert-Dobkowska E, Klimkowicz-Mrowiec A, Ziora-Jakutowicz K, Stepniak I, Zaremba J, Sulek A. Radziwonik W, et al. J Appl Genet. 2022 Sep;63(3):513-525. doi: 10.1007/s13353-022-00701-3. Epub 2022 May 19. J Appl Genet. 2022. PMID: 35588347

False-negative tests in Huntington's disease: A new variant within primer hybridization site.

Dulski J, Sulek A, Krygier M, Radziwonik W, Slawek J. Dulski J, et al. Among authors: radziwonik w. Eur J Neurol. 2021 Jun;28(6):2103-2105. doi: 10.1111/ene.14772. Epub 2021 Mar 8. Eur J Neurol. 2021. PMID: 33576024

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