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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.
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.
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
Vollstedt EJ, Madoev H, Aasly A, Ahmad-Annuar A, Al-Mubarak B, Alcalay RN, Alvarez V, Amorin I, Annesi G, Arkadir D, Bardien S, Barker RA, Barkhuizen M, Basak AN, Bonifati V, Boon A, Brighina L, Brockmann K, Carmine Belin A, Carr J, Clarimon J, Cornejo-Olivas M, Correia Guedes L, Corvol JC, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Rosa A, Dorszewska J, Ertan S, Ferese R, Ferreira J, Gatto E, Genç G, Giladi N, Gómez-Garre P, Hanagasi H, Hattori N, Hentati F, Hoffman-Zacharska D, Illarioshkin SN, Jankovic J, Jesús S, Kaasinen V, Kievit A, Klivenyi P, Kostic V, Koziorowski D, Kühn AA, Lang AE, Lim SY, Lin CH, Lohmann K, Markovic V, Martikainen MH, Mellick G, Merello M, Milanowski L, Mir P, Öztop-Çakmak Ö, Pimentel MMG, Pulkes T, Puschmann A, Rogaeva E, Sammler EM, Skaalum Petersen M, Skorvanek M, Spitz M, Suchowersky O, Tan AH, Termsarasab P, Thaler A, Tumas V, Valente EM, van de Warrenburg B, Williams-Gray CH, Wu RM, Zhang B, Zimprich A, Solle J, Padmanabhan S, Klein C. Vollstedt EJ, et al. Among authors: hoffman zacharska d. PLoS One. 2023 Oct 3;18(10):e0292180. doi: 10.1371/journal.pone.0292180. eCollection 2023. PLoS One. 2023. PMID: 37788254 Free PMC article.
Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.
Charzewska A, Terczyńska I, Lipiec A, Mazurczak T, Górka-Skoczylas P, Szlendak R, Kanabus K, Tataj R, Dawidziuk M, Wojtaś B, Gielniewski B, Bal J, Stawicka E, Hoffman-Zacharska D. Charzewska A, et al. Among authors: hoffman zacharska d. Int J Mol Sci. 2023 Jan 6;24(2):1117. doi: 10.3390/ijms24021117. Int J Mol Sci. 2023. PMID: 36674629 Free PMC article.
The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.
Zayat V, Kuczynska Z, Liput M, Metin E, Rzonca-Niewczas S, Smyk M, Mazurczak T, Goszczanska-Ciuchta A, Leszczynski P, Hoffman-Zacharska D, Buzanska L. Zayat V, et al. Among authors: hoffman zacharska d. Cells. 2023 Jan 16;12(2):339. doi: 10.3390/cells12020339. Cells. 2023. PMID: 36672274 Free PMC article.
82 results