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Page 1
Diagnostic implications of genetic copy number variation in epilepsy plus.
Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium. Coppola A, et al. Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13. Epilepsia. 2019. PMID: 30866059 Free PMC article.
Genotype-phenotype correlations in Polish patients with SCN8A-related epilepsy: A multicentre observational study.
Paprocka J, Steinborn B, Krygier M, Winczewska-Wiktor A, Przyslo L, Hutny M, Hoffman-Zacharska D, Mazurkiewicz H, Kochanowska I, Zebrowska J, Zawadzka M, Piasecki L, Mazurkiewicz-Beldzinska M. Paprocka J, et al. Among authors: hoffman zacharska d. Seizure. 2024 Aug;120:201-209. doi: 10.1016/j.seizure.2024.06.017. Epub 2024 Jun 25. Seizure. 2024. PMID: 39047613
Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.
Skwara J, Nowicki M, Sharif L, Milanowski Ł, Dulski J, Elert-Dobkowska E, Skrzypek K, Hoffman-Zacharska D, Koziorowski D, Sławek J. Skwara J, et al. Among authors: hoffman zacharska d. J Neural Transm (Vienna). 2024 Sep;131(9):1013-1024. doi: 10.1007/s00702-024-02800-3. Epub 2024 Jun 25. J Neural Transm (Vienna). 2024. PMID: 38916623 Free PMC article. Review.
Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.
Witkowski G, Szulczyk B, Nurowska E, Jurek M, Pasierski M, Lipiec A, Charzewska A, Dawidziuk M, Milewski M, Owsiak S, Rola R, Sienkiewicz Jarosz H, Hoffman-Zacharska D. Witkowski G, et al. Among authors: hoffman zacharska d. Int J Mol Sci. 2024 Feb 1;25(3):1745. doi: 10.3390/ijms25031745. Int J Mol Sci. 2024. PMID: 38339022 Free PMC article.
ADCY5-related dyskinesia - case series with literature review.
Kozon K, Łysikowska W, Olszewski J, Milanowski Ł, Figura M, Mazurczak T, Hoffman-Zacharska D, Koziorowski D. Kozon K, et al. Among authors: hoffman zacharska d. Neurol Neurochir Pol. 2024;58(2):161-166. doi: 10.5603/pjnns.97024. Epub 2024 Jan 17. Neurol Neurochir Pol. 2024. PMID: 38230756 Free article. Review.
87 results