Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 2 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

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 1976 2017

Northwestern United States
Inborn Genetic Diseases
Autophagy
Mitochondrial Membranes
Nervous System Diseases

The Molecular Basis of Infantile Neuroaxonal Dystrophy

Hayflick, S.

National Institutes of Health

5/10/062/28/10

Project: Research projectResearch Project

Neuroaxonal Dystrophies
Genes
Phenotype
Axonal Transport
Peripheral Nervous System
Pantothenate Kinase-Associated Neurodegeneration
Education
Retinitis Pigmentosa
Iron
Basal Ganglia

MOLECULAR BASIS OF SYNDROMIC RETINITIS PIGMENTOSA

Hayflick, S.

National Institutes of Health

1/1/9912/31/08

Project: Research projectResearch Project

Retinitis Pigmentosa
Pantothenate Kinase-Associated Neurodegeneration
Macular Degeneration
Lipofuscin
Coenzyme A

Research Output 1982 2018

  • 5217 Citations
  • 37 h-Index
  • 109 Article
  • 3 Chapter
  • 1 Conference contribution

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

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

Lee, J. H., Gregory, A., Hogarth, P., Rogers, C. & Hayflick, S. J. 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

Neurodegeneration with brain iron accumulation

Hayflick, S. J., Kurian, M. A. & Hogarth, P. Jan 1 2018 Handbook of Clinical Neurology. Elsevier B.V., p. 293-305 13 p. (Handbook of Clinical Neurology; vol. 147)

Research output: Chapter in Book/Report/Conference proceedingChapter

Mutation
Pantothenate Kinase-Associated Neurodegeneration
Exome
Inborn Genetic Diseases
Phospholipases A

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D. & Agrawal, P. B. Jan 1 2018 (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Manganese
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mutation
Dystonia
Metabolism

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, S. Y. , Fox, R. , Woltjer, R. L. , Tepper, P. G. , Lahaye, L. L. , Rizzetto, E. , Harrs, C. H. , De Boer, T. , Van Der Zwaag, M. , Jenko, B. , Čusak, A. , Pahor, J. , Kosec, G. , Grzeschik, N. A. , Hayflick, S. J. & 2 others Tiranti, V. & Sibon, O. C. M. Dec 1 2017 In : Scientific Reports. 7, 1, 11260

Research output: Contribution to journalArticle

Coenzyme A
Phenotype
Pantothenate Kinase-Associated Neurodegeneration
Serum
Pantothenic Acid