Susan Hayflick

Professor

  • 6065 Citations
  • 40 h-Index
1976 …2019
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Fingerprint Dive into the research topics where Susan Hayflick is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Pantothenate Kinase-Associated Neurodegeneration Medicine & Life Sciences
Mutation Medicine & Life Sciences
Iron Medicine & Life Sciences
Neuroaxonal Dystrophies Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences
Dystonia Medicine & Life Sciences
Coenzyme A Medicine & Life Sciences

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Projects 1976 2017

Northwestern United States
Inborn Genetic Diseases
Autophagy
Mitochondrial Membranes
Nervous System Diseases
Neuroaxonal Dystrophies
Genes
Phenotype
Axonal Transport
Peripheral Nervous System
Pantothenate Kinase-Associated Neurodegeneration
Education
Retinitis Pigmentosa
Iron
Basal Ganglia

Research Output 1982 2019

  • 6065 Citations
  • 40 h-Index
  • 112 Article
  • 6 Chapter
  • 1 Conference contribution

4′-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

Jeong, S. Y., Hogarth, P., Placzek, A., Gregory, A. M., 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. & 3 others, Woltjer, R. L., Sibon, O. C. M. & Hayflick, S. J., Jan 1 2019, (Accepted/In press) In : EMBO Molecular Medicine. e10489.

Research output: Contribution to journalArticle

Open Access
Pantothenate Kinase-Associated Neurodegeneration
Coenzyme A
Dopamine
Iron
Biomarkers

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

Gregory, A., Lotia, M., Jeong, S. Y., Fox, R., Zhen, D., Sanford, L., Hamada, J., Jahic, A., Beetz, C., Freed, A., Kurian, M. A., Cullup, T., van der Weijden, M. C. M., Nguyen, V., Setthavongsack, N., Garcia, D., Krajbich, V., Pham, T., Woltjer, R. R., George, B. P. & 5 others, Minks, K. Q., Paciorkowski, A. R., Hogarth, P. P., Jankovic, J. & Hayflick, S., Jul 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00736.

Research output: Contribution to journalArticle

Open Access
Mitochondrial Proteins
Mitochondrial Membranes
Membrane Proteins
Multiplex Polymerase Chain Reaction
Brain
1 Citation (Scopus)

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

Kasapkara, Ç. S., Tümer, L., Gregory, A., Ezgü, F., İnci, A., Derinkuyu, B. E., Fox, R., Rogers, C. & Hayflick, S., Jan 1 2018, (Accepted/In press) In : Acta Neurologica Belgica.

Research output: Contribution to journalArticle

Turkey
Mutation

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities

Leduc, M. S., Mcguire, M., Madan-Khetarpal, S., Ortiz, D., Hayflick, S., Keller, K., Eng, C. M., Yang, Y. & Bi, W., Mar 1 2018, In : Human Genetics. 137, 3, p. 257-264 8 p.

Research output: Contribution to journalArticle

Iris
Eye Abnormalities
Intellectual Disability
Mutation
Coloboma
3 Citations (Scopus)

Looking deep into the eye-of-the-tiger in pantothenate kinase-associated neurodegeneration

Lee, J. H., Gregory, A., Hogarth, P. P., Rogers, C. & Hayflick, S., Mar 1 2018, In : American Journal of Neuroradiology. 39, 3, p. 583-588 6 p.

Research output: Contribution to journalArticle

Pantothenate Kinase-Associated Neurodegeneration
Tigers
Globus Pallidus
Iron
Subthalamic Nucleus