Projects per year
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- 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
Coenzyme A replenishment as a therapeutic strategy for inborn errors of metabolism
Project: Research project
An international scientific conference on NBIA disorders
4/1/16 → 3/31/17
Project: Research project › Conference
Northwestern United States
Inborn Genetic Diseases
Autophagy
Mitochondrial Membranes
Nervous System Diseases
The Molecular Basis of Infantile Neuroaxonal Dystrophy
5/10/06 → 2/28/10
Project: Research project › Research Project
Neuroaxonal Dystrophies
Genes
Phenotype
Axonal Transport
Peripheral Nervous System
FIRST SCIENTIFIC WORKSHOP ON HALLERVORDEN-SPATZ SYNDROME
5/10/00 → 11/30/01
Project: Research project › Conference
Pantothenate Kinase-Associated Neurodegeneration
Education
Retinitis Pigmentosa
Iron
Basal Ganglia
MOLECULAR BASIS OF SYNDROMIC RETINITIS PIGMENTOSA
1/1/99 → 12/31/08
Project: Research project › Research Project
Retinitis Pigmentosa
Pantothenate Kinase-Associated Neurodegeneration
Macular Degeneration
Lipofuscin
Coenzyme A
Research Output 1982 2018
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
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 journal › Article
Pantothenate Kinase-Associated Neurodegeneration
Tigers
Globus Pallidus
Iron
Subthalamic Nucleus
1
Citations
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 proceeding › Chapter
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 journal › Article
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 , Dec 1 2017, In : Scientific Reports. 7, 1, 11260Research output: Contribution to journal › Article
Coenzyme A
Phenotype
Pantothenate Kinase-Associated Neurodegeneration
Serum
Pantothenic Acid