Publications by authors named "William Benko"

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Risk of Seizures and Epilepsy in the Leukodystrophies.
Ashley N Hackett, Helena Yan, Katie Liu, Camille Corre, Kerry Gao, William Benko

Pediatr Neurol· January 2026

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Heterozygous de novo variants in cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, Maism Molhem, Emmanuelle Ranza, William S Benko

J Med Genet· December 2024

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Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.
Menno D Stellingwerff, Corinne Nulton, Guy Helman, Stefan D Roosendaal, William S Benko

Neuropediatrics· April 2022

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Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Katrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, Allan Bayat, Rob P W Rouhl, William Benko

Neurol Genet· December 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, William S Benko

J Clin Endocrinol Metab· January 2021

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Hospital Utilization Among Rural Children Served by Pediatric Neurology Telemedicine Clinics.
Parul Dayal, Celia H Chang, William S Benko, Brad H Pollock, Stephanie S Crossen

JAMA Netw Open· August 2019

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Appointment completion in pediatric neurology telemedicine clinics serving underserved patients.
Parul Dayal, Celia H Chang, William S Benko, Aaron M Ulmer, Stephanie S Crossen

Neurol Clin Pract· August 2019

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CSF and Blood Levels of GFAP in Alexander Disease.
Paige L Jany, Guillermo E Agosta, William S Benko, Jens C Eickhoff, Stephanie R Keller

eNeuro· September 2015

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Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á Martos-Moreno, Luan T Tran, William Benko

Orphanet J Rare Dis· June 2015

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The saccadic and neurological deficits in type 3 Gaucher disease.
William Benko, Markus Ries, Edythe A Wiggs, Roscoe O Brady, Raphael Schiffmann

PLoS One· December 2011

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Free sialic acid storage disease without sialuria.
Fanny Mochel, Bingzhi Yang, Julie Barritault, Jerry N Thompson, Udo F H Engelke, William S Benko

Ann Neurol· June 2009

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Randomized, controlled trial of miglustat in Gaucher's disease type 3.
Raphael Schiffmann, Edmond J Fitzgibbon, Chris Harris, Catherine DeVile, Elin H Davies, William Benko

Ann Neurol· November 2008

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Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
Ehud Goldin, Rafael C Caruso, William Benko, Christine R Kaneski, Stephanie Stahl

Invest Ophthalmol Vis Sci· July 2008

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Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.
Ozlem Goker-Alpan, Edythe A Wiggs, Michael J Eblan, William Benko, Shira G Ziegler

J Pediatr· July 2008

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Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.
Raphael Schiffmann, Hasan Askari, Margaret Timmons, Chevalia Robinson, William Benko

J Am Soc Nephrol· May 2007

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