William Benko

Associate Professor

  • 579 Citations
  • 9 h-Index
20072015
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Fingerprint Dive into the research topics where William Benko is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Gaucher Disease Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Mutation Medicine & Life Sciences
DNA Mutational Analysis Medicine & Life Sciences
Sialic Acid Storage Disease Medicine & Life Sciences
Alexander Disease Medicine & Life Sciences
Aicardi Syndrome Medicine & Life Sciences
Myelin P0 Protein Medicine & Life Sciences

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Research Output 2007 2015

  • 579 Citations
  • 9 h-Index
  • 10 Article
13 Citations (Scopus)

CSF and blood levels of GFAP in Alexander disease

Jany, P. L., Agosta, G. E., Benko, W., Eickhoff, J. C., Keller, S. R., Köehler, W., Koeller, D., Mar, S., Naidu, S., Ness, J. M., Pareyson, D., Renaud, D. L., Salsano, E., Schiffmann, R., Simon, J., Vanderver, A., Eichler, F., van der Knaap, M. S. & Messing, A., Jan 1 2015, In : eNeuro. 2, 5, e0080-15.2015.

Research output: Contribution to journalArticle

Alexander Disease
Astrocytes
Intermediate Filament Proteins
Glial Fibrillary Acidic Protein
Body Fluids
7 Citations (Scopus)

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G., Tran, L. T., Benko, W., Van Der Knaap, M. S., Van Spaendonk, R. M. L., Wolf, N. I. & Bernard, G., Jun 5 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 69.

Research output: Contribution to journalArticle

Mutation
Exons
Genes
Complementary DNA
Phenotype
33 Citations (Scopus)

The saccadic and neurological deficits in type 3 Gaucher disease

Benko, W., Ries, M., Wiggs, E. A., Brady, R. O., Schiffmann, R. & FitzGibbon, E. J., Jul 26 2011, In : PLoS One. 6, 7, e22410.

Research output: Contribution to journalArticle

Gaucher Disease
Eye movements
Saccades
eyes
duration
12 Citations (Scopus)

Free sialic acid storage disease without sialuria

Mochel, F., Yang, B., Barritault, J., Thompson, J. N., Engelke, U. F. H., McNeill, N. H., Benko, W., Kaneski, C. R., Adams, D. R., Tsokos, M., Abu-Asab, M., Huizing, M., Seguin, F., Wevers, R. A., Ding, J., Verheijen, F. W. & Schiffmann, R., Jun 1 2009, In : Annals of Neurology. 65, 6, p. 753-757 5 p.

Research output: Contribution to journalArticle

Sialic Acid Storage Disease
N-Acetylneuraminic Acid
Cerebrospinal Fluid
Urine
Mutation
24 Citations (Scopus)

Cognitive Outcome in Treated Patients with Chronic Neuronopathic Gaucher Disease

Goker-Alpan, O., Wiggs, E. A., Eblan, M. J., Benko, W., Ziegler, S. G., Sidransky, E. & Schiffmann, R., Jul 1 2008, In : Journal of Pediatrics. 153, 1

Research output: Contribution to journalArticle

Gaucher Disease
Enzyme Replacement Therapy
Enzyme Assays
Intelligence
Bone Marrow