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  • 4 Similar Profiles
Pantothenate Kinase-Associated Neurodegeneration Medicine & Life Sciences
Mutation Medicine & Life Sciences
Neurodegeneration with brain iron accumulation (NBIA) Medicine & Life Sciences
Genes Medicine & Life Sciences
Iron Medicine & Life Sciences
Brain Medicine & Life Sciences
Coenzyme A Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences

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Projects 1976 2017

Neurodegeneration with brain iron accumulation (NBIA)
Therapeutics
Northwestern United States
Inborn Genetic Diseases
Autophagy

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
Research
Iron
Retinitis Pigmentosa

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
Genes
Macular Degeneration
Mutation

Research Output 1982 2017

  • 4931 Citations
  • 34 h-Index
  • 106 Article
  • 2 Chapter
  • 1 Conference contribution

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: Research - peer-reviewArticle

Coenzyme A
Phenotype
Serum
pantothenate kinase
4'-phosphopantetheine

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN

Aoun, M., Corsetto, P. A., Nugue, G., Montorfano, G., Ciusani, E., Crouzier, D., Hogarth, P., Gregory, A., Hayflick, S., Zorzi, G., Rizzo, A. M. & Tiranti, V. Jun 1 2017 In : Molecular Genetics and Metabolism. 121, 2, p. 180-189 10 p.

Research output: Research - peer-reviewArticle

Pantothenate Kinase-Associated Neurodegeneration
Membrane Lipids
Erythrocytes
Blood
Chemical analysis
4 Citations

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Haack, T. B. , Ignatius, E. , Calvo-Garrido, J. , Iuso, A. , Isohanni, P. , Maffezzini, C. , Lönnqvist, T. , Suomalainen, A. , Gorza, M. , Kremer, L. S. , Graf, E. , Hartig, M. , Berutti, R. , Paucar, M. , Svenningsson, P. , Stranneheim, H. , Brandberg, G. , Wedell, A. , Kurian, M. A. , Hayflick, S. A. & 13 others Venco, P., Tiranti, V., Strom, T. M., Dichgans, M., Horvath, R., Holinski-Feder, E., Freyer, C., Meitinger, T., Prokisch, H., Senderek, J., Wredenberg, A., Carroll, C. J. & Klopstock, T. May 17 2016 (Accepted/In press) In : American Journal of Human Genetics.

Research output: Research - peer-reviewArticle

Dystonia
Autophagy
Ataxia
Paralysis
Neurodegenerative Diseases
1 Citations

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

Hogarth, P., Kurian, M. A., Gregory, A., Csányi, B., Zagustin, T., Kmiec, T., Wood, P., Klucken, A., Scalise, N., Sofia, F., Klopstock, T., Zorzi, G., Nardocci, N. & Hayflick, S. J. Sep 30 2016 (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Research - peer-reviewArticle

4 Citations

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Heimer, G. , Kerätär, J. M. , Riley, L. G. , Balasubramaniam, S. , Eyal, E. , Pietikäinen, L. P. , Hiltunen, J. K. , Marek-Yagel, D. , Hamada, J. , Gregory, A. , Rogers, C. , Hogarth, P. , Nance, M. A. , Shalva, N. , Veber, A. , Tzadok, M. , Nissenkorn, A. , Tonduti, D. , Renaldo, F. , Bamshad, M. J. & 56 others Leal, S. M., Nickerson, D. A., Anderson, P., Annable, M., Blue, E. M., Buckingham, K. J., Chin, J., Chong, J. X., Cornejo, R., Davis, C. P., Frazar, C., He, Z., Jarvik, G. P., Jimenez, G., Johanson, E., Kolar, T., Krauter, S. A., Luksic, D., Marvin, C. T., McGee, S., McGoldrick, D. J., Patterson, K., Perez, M., Phillips, S. W., Pijoan, J., Robertson, P. D., Santos-Cortez, R., Shankar, A., Slattery, K., Shively, K. M., Siegel, D. L., Smith, J. D., Tackett, M., Wang, G., Wegener, M., Weiss, J. M., Wernick, R. I., Wheeler, M. M., Yi, Q., Kraoua, I., Panteghini, C., Valletta, L., Garavaglia, B., Cowley, M. J., Gayevskiy, V., Roscioli, T., Silberstein, J. M., Hoffmann, C., Raas-Rothschild, A., Tiranti, V., Anikster, Y., Christodoulou, J., Kastaniotis, A. J., Ben-Zeev, B., Hayflick, S. J. & University of Washington Center for Mendelian Genomics Dec 1 2016 In : American Journal of Human Genetics. 99, 6, p. 1229-1244 16 p.

Research output: Research - peer-reviewArticle

Dystonic Disorders
Optic Atrophy
Fatty Acids
Mutation
acyl-CoA dehydrogenase (NADP+)