Susan J Hayflick, M.D.
Affiliations: | Molecular and Medical Genetics | Oregon Health and Science University, Portland, OR |
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| Cavestro C, Morra F, Legati A, et al. (2024) Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. Annals of Clinical and Translational Neurology |
| Papandreou A, Singh N, Gianfrancesco L, et al. (2023) Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency. Biorxiv : the Preprint Server For Biology |
| Hayflick SJ. (2023) A Brief History of NBIA Gene Discovery. Journal of Movement Disorders |
| Spaull RVV, Soo AKS, Hogarth P, et al. (2021) Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation. Tremor and Other Hyperkinetic Movements (New York, N.Y.). 11: 51 |
| Lee JH, Yun JY, Gregory A, et al. (2020) Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation. Frontiers in Neurology. 11: 1024 |
| Lambrechts RA, Schepers H, Yu Y, et al. (2019) CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases. Embo Molecular Medicine. e10488 |
| Jeong SY, Hogarth P, Placzek A, et al. (2019) 4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN. Embo Molecular Medicine. e10489 |
| Klopstock T, Tricta F, Neumayr L, et al. (2019) Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. The Lancet. Neurology. 18: 631-642 |
| Gregory A, Lotia M, Jeong SY, et al. (2019) Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Molecular Genetics & Genomic Medicine. e736 |
| Kasapkara ÇS, Tümer L, Gregory A, et al. (2018) A new NBIA patient from Turkey with homozygous C19ORF12 mutation. Acta Neurologica Belgica |