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133 results

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Page 1
POLR3A-related disorders: expanding the clinical phenotype.
McKenna MC, O'Connor A, Lockhart A, Bogdanova-Mihaylova P, Brett F, Langan Y, Meaney J, Costigan D, Doherty CP, Bede P, Murphy SM, Hutchinson S. McKenna MC, et al. Among authors: brett f. J Neurol. 2024 Feb 27. doi: 10.1007/s00415-024-12265-9. Online ahead of print. J Neurol. 2024. PMID: 38413463 No abstract available.
Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.
Carton RJ, Doyle MG, Kearney H, Steward CA, Lench NJ, Rogers A, Heinzen EL, McDonald S, Fay J, Lacey A, Beausang A, Cryan J, Brett F, El-Naggar H, Widdess-Walsh P, Costello D, Kilbride R, Doherty CP, Sweeney KJ, O'Brien DF, Henshall DC, Delanty N, Cavalleri GL, Benson KA. Carton RJ, et al. Among authors: brett f. Epilepsia. 2024 May;65(5):1451-1461. doi: 10.1111/epi.17943. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491957
Immunoproteasome deficiency results in age-dependent development of epilepsy.
Leister H, Krause FF, Gil B, Prus R, Prus I, Hellhund-Zingel A, Mitra M, Da Rosa Gerbatin R, Delanty N, Beausang A, Brett FM, Farrell MA, Cryan J, O'Brien DF, Henshall DC, Helmprobst F, Pagenstecher A, Steinhoff U, Visekruna A, Engel T. Leister H, et al. Among authors: brett fm. Brain Commun. 2024 Jan 29;6(1):fcae017. doi: 10.1093/braincomms/fcae017. eCollection 2024. Brain Commun. 2024. PMID: 38317856 Free PMC article.
Ex vivo drug sensitivity screening predicts response to temozolomide in glioblastoma patients and identifies candidate biomarkers.
Ntafoulis I, Kleijn A, Ju J, Jimenez-Cowell K, Fabro F, Klein M, Chi Yen RT, Balvers RK, Li Y, Stubbs AP, Kers TV, Kros JM, Lawler SE, Beerepoot LV, Kremer A, Idbaih A, Verreault M, Byrne AT, O'Farrell AC, Connor K, Biswas A, Salvucci M, Prehn JHM, Lambrechts D, Dilcan G, Lodi F, Arijs I, van den Bent MJ, Dirven CMF, Leenstra S; GLIOTRAIN consortium; Lamfers MLM. Ntafoulis I, et al. Br J Cancer. 2023 Oct;129(8):1327-1338. doi: 10.1038/s41416-023-02402-y. Epub 2023 Aug 24. Br J Cancer. 2023. PMID: 37620410 Free PMC article.
CPEB4-CLOCK crosstalk during temporal lobe epilepsy.
de Diego-Garcia L, Brennan GP, Auer T, Menendez-Mendez A, Parras A, Martin-Gil A, Mitra M, Ollà I, Villalba-Benito L, Gil B, Alves M, Lau K, Delanty N, Beausang A, Cryan J, Brett FM, Farrell MA, O'Brien DF, Mendez R, Carracedo-Rodríguez G, Henshall DC, Lucas JJ, Engel T. de Diego-Garcia L, et al. Among authors: brett fm. Epilepsia. 2023 Oct;64(10):2827-2840. doi: 10.1111/epi.17736. Epub 2023 Aug 14. Epilepsia. 2023. PMID: 37543852
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
133 results