William Benko

Title(s)	Professor, Neurology
School	School of Medicine
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Publications

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.

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Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants. Neuropediatrics. 2022 04; 53(2):115-121. Stellingwerff MD, Nulton C, Helman G, Roosendaal SD, Benko WS, Pizzino A, Bugiani M, Vanderver A, Simons C, van der Knaap MS. PMID: 35026854; PMCID: PMC9270846.

View in: PubMed Mentions: 2 Fields:
Neu Neurology Ped Pediatrics
Translation:Humans
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. Neurol Genet. 2021 Dec; 7(6):e613. Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G, PURA study group. PMID: 34790866; PMCID: PMC8592566.

View in: PubMed Mentions: 8
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 01 23; 106(2):e660-e674. Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkinay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. PMID: 33005949; PMCID: PMC7823228.

View in: PubMed Mentions: 15 Fields:
End Endocrinology Met Metabolism
Translation:Humans
Hospital Utilization Among Rural Children Served by Pediatric Neurology Telemedicine Clinics. JAMA Netw Open. 2019 08 02; 2(8):e199364. Dayal P, Chang CH, Benko WS, Pollock BH, Crossen SS, Kissee J, Ulmer AM, Hoch JS, Warner L, Marcin JP. PMID: 31418803; PMCID: PMC6704740.

View in: PubMed Mentions: 9 Fields:
Med Medicine (General)
Translation:Humans
Appointment completion in pediatric neurology telemedicine clinics serving underserved patients. Neurol Clin Pract. 2019 Aug; 9(4):314-321. Dayal P, Chang CH, Benko WS, Ulmer AM, Crossen SS, Pollock BH, Hoch JS, Kissee JL, Warner L, Marcin JP. PMID: 31583186; PMCID: PMC6745750.

View in: PubMed Mentions: 9
CSF and Blood Levels of GFAP in Alexander Disease eNeuro. 2015 09; 2(5). Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A. PMID: 26478912; PMCID: PMC4603256.

View in: PubMed Mentions: 14 Fields:
Bra Brain Neu Neurology
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet J Rare Dis. 2015 Jun 05; 10:69. Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G. PMID: 26045207; PMCID: PMC4520020.

View in: PubMed Mentions: 13 Fields:
Med Medicine (General)
Translation:Humans
The saccadic and neurological deficits in type 3 Gaucher disease. PLoS One. 2011; 6(7):e22410. Benko W, Ries M, Wiggs EA, Brady RO, Schiffmann R, Fitzgibbon EJ. PMID: 21799847; PMCID: PMC3140522.

View in: PubMed Mentions: 33 Fields:
Med Medicine (General)Sci Science
Translation:Humans CTClinical Trials
Free sialic acid storage disease without sialuria. Ann Neurol. 2009 Jun; 65(6):753-7. Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R. PMID: 19557856; PMCID: PMC3508714.

View in: PubMed Mentions: 5 Fields:
Neu Neurology
Translation:Humans
Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol. 2008 Nov; 64(5):514-22. Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, van Schaik IN, Benko W, Timmons M, Ries M, Vellodi A. PMID: 19067373; PMCID: PMC2605167.

View in: PubMed Mentions: 91 Fields:
Neu Neurology
Translation:Humans CTClinical Trials
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. Neurology. 2008 Mar 18; 70(12):976-8. Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E. PMID: 18347322; PMCID: PMC4617237.

View in: PubMed Mentions: 9 Fields:
Neu Neurology
Translation:Humans Cells
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance. Invest Ophthalmol Vis Sci. 2008 Jul; 49(7):3134-42. Goldin E, Caruso RC, Benko W, Kaneski CR, Stahl S, Schiffmann R. PMID: 18326692; PMCID: PMC5267708.

View in: PubMed Mentions: 11 Fields:
Oph Ophthalmology
Translation:Humans Cells
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. J Pediatr. 2008 Jul; 153(1):89-94. Goker-Alpan O, Wiggs EA, Eblan MJ, Benko W, Ziegler SG, Sidransky E, Schiffmann R. PMID: 18571543.

View in: PubMed Mentions: 23 Fields:
Ped Pediatrics
Translation:Humans
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct; 81(4):713-25. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. PMID: 17846997; PMCID: PMC2227922.

View in: PubMed Mentions: 176 Fields:
Gen Genetics
Translation:Humans
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol. 2007 May; 18(5):1576-83. Schiffmann R, Askari H, Timmons M, Robinson C, Benko W, Brady RO, Ries M. PMID: 17409308; PMCID: PMC1978101.

View in: PubMed Mentions: 43 Fields:
Nep Nephrology
Translation:Humans CTClinical Trials