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Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: de bot st. Genet Med. 2024 Jun;26(6):101105. doi: 10.1016/j.gim.2024.101105. Epub 2024 Feb 27. Genet Med. 2024. PMID: 38430071 Free article.
Development of the Huntington Support App (HD-eHelp study): a human-centered and co-design approach.
van Lonkhuizen PJC, Heemskerk AW, Meijer E, van Duijn E, de Bot ST, Klempir J, Landwehrmeyer GB, Mühlbäck A, Hoblyn J, Squitieri F, Chavannes NH, Vegt NJH; HEALTHE-RND consortium. van Lonkhuizen PJC, et al. Among authors: de bot st. Front Neurol. 2024 Jul 1;15:1399126. doi: 10.3389/fneur.2024.1399126. eCollection 2024. Front Neurol. 2024. PMID: 39011363 Free PMC article.
Tominersen in Adults with Manifest Huntington's Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators. McColgan P, et al. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. N Engl J Med. 2023. PMID: 38055260 No abstract available.
Mapping the glial transcriptome in Huntington's disease using snRNAseq: selective disruption of glial signatures across brain regions.
Bøstrand SMK, Seeker LA, Bestard-Cuche N, Kazakou NL, Jäkel S, Kenkhuis B, Henderson NC, de Bot ST, van Roon-Mom WMC, Priller J, Williams A. Bøstrand SMK, et al. Among authors: de bot st. Acta Neuropathol Commun. 2024 Oct 21;12(1):165. doi: 10.1186/s40478-024-01871-3. Acta Neuropathol Commun. 2024. PMID: 39428482 Free PMC article.
Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington's disease gene expansion carriers.
van Lonkhuizen PJC, Heemskerk AW, Slutter L, van Duijn E, de Bot ST, Chavannes NH, Meijer E; HEALTHE-RND consortium. van Lonkhuizen PJC, et al. Among authors: de bot st. Orphanet J Rare Dis. 2024 Nov 29;19(1):444. doi: 10.1186/s13023-024-03461-x. Orphanet J Rare Dis. 2024. PMID: 39614274 Free PMC article.
52 results