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140 results

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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. Among authors: hayflick s. Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020. Brain Commun. 2020. PMID: 33629063 Free PMC article.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Dusi S, et al. Among authors: hayflick s. Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360804 Free PMC article.
WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.
Crisp SJ, Meyer E, Gregory A, Archer H, Hayflick S, Kurian MA, de Silva R. Crisp SJ, et al. Among authors: hayflick s. Mov Disord Clin Pract. 2015 Feb 24;2(1):81-83. doi: 10.1002/mdc3.12120. eCollection 2015 Mar. Mov Disord Clin Pract. 2015. PMID: 30713886 Free PMC article. No abstract available.
Alterations of red cell membrane properties in neuroacanthocytosis.
Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U. Siegl C, et al. Among authors: hayflick s. PLoS One. 2013 Oct 3;8(10):e76715. doi: 10.1371/journal.pone.0076715. eCollection 2013. PLoS One. 2013. PMID: 24098554 Free PMC article.
A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
Kasapkara ÇS, Tümer L, Gregory A, Ezgü F, İnci A, Derinkuyu BE, Fox R, Rogers C, Hayflick S. Kasapkara ÇS, et al. Among authors: hayflick s. Acta Neurol Belg. 2019 Dec;119(4):623-625. doi: 10.1007/s13760-018-1026-5. Epub 2018 Oct 8. Acta Neurol Belg. 2019. PMID: 30298423 Free PMC article. No abstract available.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V. Brunetti D, et al. Among authors: hayflick s. Hum Mol Genet. 2012 Dec 15;21(24):5294-305. doi: 10.1093/hmg/dds380. Epub 2012 Sep 13. Hum Mol Genet. 2012. PMID: 22983956 Free PMC article.
140 results