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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B. van den Ameele J, et al. Among authors: van mossevelde s, van broeckhoven c. Neurology. 2018 Feb 20;90(8):e658-e663. doi: 10.1212/WNL.0000000000004999. Epub 2018 Jan 19. Neurology. 2018. PMID: 29352102
In preprints: releasing the brakes on neuronal maturation.
Rayon T, van den Ameele J. Rayon T, et al. Among authors: van den ameele j. Development. 2022 Dec 15;149(24):dev201477. doi: 10.1242/dev.201477. Epub 2022 Dec 14. Development. 2022. PMID: 36515644 No abstract available.
Late-onset post-irradiation vasculopathy of the posterior cerebral vasculature.
van den Ameele J, Sieben A, Van den Broecke C, Boterberg T, Defreyne L, Achten E, Lammens M, Hemelsoet D. van den Ameele J, et al. Among authors: van den broecke c. Acta Neurol Belg. 2012 Mar;112(1):101-4. doi: 10.1007/s13760-012-0014-4. Epub 2012 Feb 2. Acta Neurol Belg. 2012. PMID: 22427301
Mitochondrial Diseases: A Diagnostic Revolution.
Schon KR, Ratnaike T, van den Ameele J, Horvath R, Chinnery PF. Schon KR, et al. Among authors: van den ameele j. Trends Genet. 2020 Sep;36(9):702-717. doi: 10.1016/j.tig.2020.06.009. Epub 2020 Jul 13. Trends Genet. 2020. PMID: 32674947 Review.
High prevalence of focal and multi-focal somatic genetic variants in the human brain.
Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J, Wilson I, Bashton M, Beck J, West J, Chen R, Haudenschild C, Bartha G, Luo S, Morris CM, Jones NS, Attems J, Chinnery PF. Keogh MJ, et al. Among authors: van den ameele j. Nat Commun. 2018 Oct 15;9(1):4257. doi: 10.1038/s41467-018-06331-w. Nat Commun. 2018. PMID: 30323172 Free PMC article.
Mitochondrial heteroplasmy beyond the oocyte bottleneck.
van den Ameele J, Li AYZ, Ma H, Chinnery PF. van den Ameele J, et al. Semin Cell Dev Biol. 2020 Jan;97:156-166. doi: 10.1016/j.semcdb.2019.10.001. Epub 2019 Oct 11. Semin Cell Dev Biol. 2020. PMID: 31611080 Review.
Chronic pain is common in mitochondrial disease.
van den Ameele J, Fuge J, Pitceathly RDS, Berry S, McIntyre Z, Hanna MG, Lee M, Chinnery PF. van den Ameele J, et al. Neuromuscul Disord. 2020 May;30(5):413-419. doi: 10.1016/j.nmd.2020.02.017. Epub 2020 Feb 29. Neuromuscul Disord. 2020. PMID: 32334903 Free PMC article.
36 results