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Page 1
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Ghorbani F, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Pennings M, de Boer EN, Kremer B, Vanhoutte EK, de Vries JJ, van de Berg R, Kamsteeg EJ, van Diemen CC, Westers H, van de Warrenburg BP, Verbeek DS. Ghorbani F, et al. Among authors: de boer bergsma j. J Neurol. 2022 Nov;269(11):6086-6093. doi: 10.1007/s00415-022-11275-9. Epub 2022 Jul 21. J Neurol. 2022. PMID: 35864213 Free PMC article.
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS. Nibbeling EAR, et al. Among authors: de boer bergsma jj. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251. Brain. 2017. PMID: 29053796
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F, Alimohamed MZ, Vilacha JF, Van Dijk KK, De Boer-Bergsma J, Fokkens MR, Lemmink H, Sijmons RH, Sikkema-Raddatz B, Groves MR, Verschuuren-Bemelmans CC, Verbeek DS, Van Diemen CC, Westers H. Ghorbani F, et al. Among authors: de boer bergsma j. Front Genet. 2022 Mar 25;13:782685. doi: 10.3389/fgene.2022.782685. eCollection 2022. Front Genet. 2022. PMID: 35401678 Free PMC article.
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC. Ghorbani F, et al. Among authors: de boer bergsma j. Neurol Genet. 2023 Feb 2;9(1):e200050. doi: 10.1212/NXG.0000000000200050. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 38058854 Free PMC article.
RNA-Sequencing Highlights Inflammation and Impaired Integrity of the Vascular Wall in Brain Arteriovenous Malformations.
Hauer AJ, Kleinloog R, Giuliani F, Rinkel GJE, de Kort GA, Berkelbach van der Sprenkel JW, van der Zwan A, Gosselaar PH, van Rijen PC, de Boer-Bergsma JJ, Deelen P, Swertz MA, De Muynck L, Van Damme P, Veldink JH, Ruigrok YM, Klijn CJM. Hauer AJ, et al. Among authors: de boer bergsma jj. Stroke. 2020 Jan;51(1):268-274. doi: 10.1161/STROKEAHA.119.025657. Epub 2019 Dec 4. Stroke. 2020. PMID: 31795902 Clinical Trial.
A novel microglial subset plays a key role in myelinogenesis in developing brain.
Wlodarczyk A, Holtman IR, Krueger M, Yogev N, Bruttger J, Khorooshi R, Benmamar-Badel A, de Boer-Bergsma JJ, Martin NA, Karram K, Kramer I, Boddeke EW, Waisman A, Eggen BJ, Owens T. Wlodarczyk A, et al. Among authors: de boer bergsma jj. EMBO J. 2017 Nov 15;36(22):3292-3308. doi: 10.15252/embj.201696056. Epub 2017 Sep 28. EMBO J. 2017. PMID: 28963396 Free PMC article.
Aging, microglia and cytoskeletal regulation are key factors in the pathological evolution of the APP23 mouse model for Alzheimer's disease.
Janssen L, Dubbelaar ML, Holtman IR, de Boer-Bergsma J, Eggen BJ, Boddeke HW, De Deyn PP, Van Dam D. Janssen L, et al. Among authors: de boer bergsma j. Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):395-405. doi: 10.1016/j.bbadis.2016.11.014. Epub 2016 Nov 10. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27838490 Free article.