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Page 1
PKAN pathogenesis and treatment.
Hayflick SJ, Jeong SY, Sibon OCM. Hayflick SJ, et al. Mol Genet Metab. 2022 Nov;137(3):283-291. doi: 10.1016/j.ymgme.2022.09.011. Epub 2022 Oct 5. Mol Genet Metab. 2022. PMID: 36240582 Free PMC article. Review.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Mohammad SS, Angiti RR, Biggin A, Morales-Briceño H, Goetti R, Perez-Dueñas B, Gregory A, Hogarth P, Ng J, Papandreou A, Bhattacharya K, Rahman S, Prelog K, Webster RI, Wassmer E, Hayflick S, Livingston J, Kurian M, Chong WK, Dale RC; Basal Ganglia MRI Study Group. Mohammad SS, et al. Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020. Brain Commun. 2020. PMID: 33629063 Free PMC article.
4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN.
Jeong SY, Hogarth P, Placzek A, Gregory AM, Fox R, Zhen D, Hamada J, van der Zwaag M, Lambrechts R, Jin H, Nilsen A, Cobb J, Pham T, Gray N, Ralle M, Duffy M, Schwanemann L, Rai P, Freed A, Wakeman K, Woltjer RL, Sibon OC, Hayflick SJ. Jeong SY, et al. EMBO Mol Med. 2019 Dec;11(12):e10489. doi: 10.15252/emmm.201910489. Epub 2019 Oct 29. EMBO Mol Med. 2019. PMID: 31660701 Free PMC article.
Neurodegeneration with brain iron accumulation.
Hayflick SJ, Kurian MA, Hogarth P. Hayflick SJ, et al. Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. Handb Clin Neurol. 2018. PMID: 29325618 Free PMC article. Review.
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.
Di Meo I, Colombelli C, Srinivasan B, de Villiers M, Hamada J, Jeong SY, Fox R, Woltjer RL, Tepper PG, Lahaye LL, Rizzetto E, Harrs CH, de Boer T, van der Zwaag M, Jenko B, Čusak A, Pahor J, Kosec G, Grzeschik NA, Hayflick SJ, Tiranti V, Sibon OCM. Di Meo I, et al. Sci Rep. 2017 Sep 12;7(1):11260. doi: 10.1038/s41598-017-11564-8. Sci Rep. 2017. PMID: 28900161 Free PMC article.