Projects per year
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- 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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 1976 2017
Coenzyme A replenishment as a therapeutic strategy for inborn errors of metabolism
Project: Research project
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 2018
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 journal › Article
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 journal › Article
Iris
Eye Abnormalities
Intellectual Disability
Mutation
Coloboma
2
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 journal › Article
Pantothenate Kinase-Associated Neurodegeneration
Tigers
Globus Pallidus
Iron
Subthalamic Nucleus
11
Citations
(Scopus)
Neurodegeneration with brain iron accumulation
Hayflick, S., Kurian, M. A. & Hogarth, P. 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 proceeding › Chapter
Mutation
Pantothenate Kinase-Associated Neurodegeneration
Exome
Inborn Genetic Diseases
Phospholipases A2
5
Citations
(Scopus)
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., 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 journal › Article
Manganese
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mutation
Dystonia
Metabolism