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Quality of life, health-related quality of life, and associated factors in Huntington's disease: a systematic review.
van Lonkhuizen PJC, Frank W, Heemskerk AW, van Duijn E, de Bot ST, Mühlbäck A, Landwehrmeyer GB, Chavannes NH, Meijer E; HEALTHE-RND consortium. van Lonkhuizen PJC, et al. Among authors: de bot st. J Neurol. 2023 May;270(5):2416-2437. doi: 10.1007/s00415-022-11551-8. Epub 2023 Jan 30. J Neurol. 2023. PMID: 36715747 Free PMC article. Review.
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.
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study.
Tramutola A, Bakels HS, Perrone F, Di Nottia M, Mazza T, Abruzzese MP, Zoccola M, Pagnotta S, Carrozzo R, de Bot ST, Perluigi M, van Roon-Mom WMC, Squitieri F. Tramutola A, et al. Among authors: de bot st. EBioMedicine. 2023 Nov;97:104849. doi: 10.1016/j.ebiom.2023.104849. Epub 2023 Oct 26. EBioMedicine. 2023. PMID: 37898095 Free PMC article.
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 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print. Genet Med. 2024. PMID: 38430071 Free article.
Study protocol for the Heads-Up trial: a phase II randomized controlled trial investigating head-up tilt sleeping to alleviate orthostatic intolerance in Parkinson's Disease and parkinsonism.
van der Stam AH, de Vries NM, Shmuely S, Smeenk D, Rutten JH, van Rossum IA, de Bot ST, Claassen JA, Bloem BR, Thijs RD. van der Stam AH, et al. Among authors: de bot st. BMC Neurol. 2024 Jan 2;24(1):4. doi: 10.1186/s12883-023-03506-x. BMC Neurol. 2024. PMID: 38166676 Free PMC article.
Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics.
Feleus S, van der Lee M, Swen JJ, Roos RAC, de Bot ST. Feleus S, et al. Among authors: de bot st. Ther Adv Rare Dis. 2023 Nov 8;4:26330040231204643. doi: 10.1177/26330040231204643. eCollection 2023 Jan-Dec. Ther Adv Rare Dis. 2023. PMID: 37955016 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: de bot st. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
41 results