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Page 1
LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics.
Muffels IJJ, Carter T, Rehmann H, Vastert SJ, Verrijn Stuart AA, Blank AC, Garde A, van der Zwaag B, De Lange IM, Giltay JC, van Gassen KLI, Koop K, Asensio CS, van Hasselt PM. Muffels IJJ, et al. Among authors: van hasselt pm. iScience. 2025 May 5;28(6):112585. doi: 10.1016/j.isci.2025.112585. eCollection 2025 Jun 20. iScience. 2025. PMID: 40491492 Free PMC article.
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI. Asbreuk MABC, et al. Among authors: van hasselt pm. Neurology. 2025 Jul 22;105(2):e213817. doi: 10.1212/WNL.0000000000213817. Epub 2025 Jun 27. Neurology. 2025. PMID: 40577679 Free PMC article. Review.
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editors.
Joore IP, Shehata S, Muffels I, Castro-Alpízar J, Jiménez-Curiel E, Nagyova E, Levy N, Tang Z, Smit K, Vermeij WP, Rodenburg R, Schiffelers R, Nieuwenhuis EES, van Hasselt PM, Fuchs SA, Koppens MAJ. Joore IP, et al. Among authors: van hasselt pm. PLoS Biol. 2025 Jun 24;23(6):e3003207. doi: 10.1371/journal.pbio.3003207. eCollection 2025 Jun. PLoS Biol. 2025. PMID: 40554457 Free PMC article.
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, García-Cazorla Á, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H, Wolf NI. Schoenmakers DH, et al. Among authors: van hasselt pm. Eur J Paediatr Neurol. 2025 May 29;57:72-81. doi: 10.1016/j.ejpn.2025.05.012. Online ahead of print. Eur J Paediatr Neurol. 2025. PMID: 40482356 Free article.
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P; GACR “Bird's Eye View” Consortium; van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM. Balfoort BM, et al. Among authors: van hasselt pm. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples.
Saarela D, Lis P, Gomes S, Nirujogi RS, Dong W, Rawat E, Glendinning S, Zeneviciute K, Bagnoli E, Fasimoye R, Lin C, Nyame K, Boros FA, Zunke F, Lamoliatte F, Elshani S, Jaconelli M, Jans JJ, Huisman MA, Posern C, Westermann LM, Schulz A, van Hasselt PM, Alessi DR, Abu-Remaileh M, Sammler EM. Saarela D, et al. Among authors: van hasselt pm. J Clin Invest. 2024 Dec 26;135(4):e183592. doi: 10.1172/JCI183592. J Clin Invest. 2024. PMID: 39724071 Free PMC article.
155 results