المصدر: A Randomized Trial of Ocular Electroacupuncture for Abducens Nerve Palsy

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03099460Test

المؤلفون: American Academy of Optometry

المساهمون: Kevin Houston, Associate Professor

المصدر: Head-Cancelled Virtual Reality for Rehabilitation of Ocular Cranial Nerve Palsies

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT06417216Test

المصدر: A Retrospective Study to Investigate the Efficacy and Relative Factors of Ocular Acupuncture in Ocular Motor Nerve Palsy Patients

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03461809Test

المؤلفون: Howard Hughes Medical Institute, National Eye Institute (NEI)

المساهمون: Elizabeth Engle, Investigator, Howard Hughes Medical Institute; Professor of Neurology and Ophthalmology, Harvard Medical School

المصدر: Park JG, Tchfld MA, Nugent AA, Cheng L, DG SA, Chan WM, Maconach G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob Engle EC. Loss of MAFB Functn Humans and Me Causes Duane Syndrome, Aberrant Extraocular Muscle nervatn, and ner-Ear Defects. Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. do 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12.
Balasubramann R, Chew S, MacKnon SE, Kang PB, Andrews C, Chan WM, Engle EC. Expandg the phenotyp spectrum and varby of endocre abnormals assocted wh TUBB3 E410K syndrome. J Cl Endocrol Metab. 2015 Mar;100(3):E473-7. do 10.1210/jc.2014-4107. Epub 2015 Jan 5.
MacKnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. Dgnost dtctns and genet analys of patnts dgnosed wh moebs syndrome. Ophthalmology. 2014 Jul;121(7):1461-8. do 10.1016/j.ophtha.2014.01.006. Epub 2014 Mar 6.
Shaaban S, Ramos-Platt L, Gles FH, Chan WM, Andrews C, De GolamU, Demer J, Engle EC. RYR1 mutatns as a cause of ophthalmopleg, facl weakness, and malnant hypertherm. JAMA Ophthalmol. 2013 Dec;131(12):1532-40. do 10.1001/jamaophthalmol.2013.4392.
Graeber CP, Hunter DG, Engle EC. The genet bas of comant strabmus: consolatn of the current knowledge of the genet foundatns of dease. Sem Ophthalmol. 2013 Sep-Nov;28(5-6):427-37. do 10.3109/08820538.2013.825288.
Tchfld MA, Bar HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bd TD, Gottlob Ph C, TraboulsE Pomeroy SL, Hunter DG, Soul JS, Newl A, Sabol LJ, Doherty EJ, de UzcateguCE, de UzcateguN, Colls ML, Sener EC, Wabbels B, Hellebrand H, Meger T, de Berard T, MaglA, SchvC, Pastore-Trossello M, Koc F, Wong AM, Lev AV, Geraghty MT, Descartes M, Flaherty M, Jamson RV, Moller HU, Meuthen Callen DF, Kerw J, Ldsay S, Medl A, Gupta ML Jr, Pellman D, Engle EC. Human TUBB3 mutatns perturb mrotubule dynams, kes teractns, and axon guance. Cell. 2010 Jan 8;140(1):74-87. do 10.1016/j.cell.2009.12.011.
Make N, Andrews C, Fan W, He W, Chan WM, Engle EC. CHN1 mutatns are not a common cause of sporad Duane's retractn syndrome. Am J Med Genet A. 2010 Jan;152A(1):215-7. do 10.1002/ajmg.a.33168. No abstract avaable.
DG SA, Connors S, MatsunamN, Cannavo J, Rose MF, Gette NM, ArtonP, de Macena Sobrea NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryz C, Ramez-Martez A, Mohassel P, Leppert M, Scholand MB, Grunseh C, Ferrea CR, Hartman T, Hayes , Morgan T, Mark DM, FaglM, Swt A, Ches PS, Speck-Marts CE, Colls FS, Jabs EW, Bonnemann CG, Olson EN; Moebs Syndrome Research Consortm; Carey JC, Robertson SP, Manol Engle EC. A defect myoblast fusn underls Carey-Feman-Zer syndrome. Nat Commun. 2017 Jul 6;8:16077. do 10.1038/ncomms16077.
TelegrafA, Webb BD, Robbs SM, Speck-Marts CE, FzPatrk D, Flemg L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manol Engle EC; Moebs Syndrome Research Consortm; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobrea NLM. entatn of STAC3 varnts non-Nate Ameran fams wh overlappg features of Carey-Feman-Zer syndrome and Moebs syndrome. Am J Med Genet A. 2017 Oct;173(10):2763-2771. do 10.1002/ajmg.a.38375. Epub 2017 Aug 4.
Whman MC, Make N, Nguyen EH, Bell JL, Matos Ru PM, Chan WM, DG SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC. Decreased ACKR3 (CXCR7) functn causes oculomotor synkes me and humans. Hum Mol Genet. 2019 Sep 15;28(18):3113-3125. do 10.1093/hmg/ddz137.
Grant PE, K, Ahtam B, Laurentys CT, Chan WM, Braard M, Chew S, Drottar M, Robson CD, Drm Engle EC. Altered Whe Matter Organatn the TUBB3 E410K Syndrome. Cereb Cortex. 2019 Jul 22;29(8):3561-3576. do 10.1093/cercor/bhy231.
Shaaban S, MacKnon S, Andrews C, StaffrSE, Maconach GDE, Chan WM, Whman MC, Morton SU, Yazar S, MacGregor S, Elder JE, TraboulsE Gottlob Hewt AW; Strabmus Genets Research Consortm; Hunter DG, Mackey DA, Engle EC. Genome-We Assoctn Study ents a Suscepty Locus for Comant Esotrop and Suggests a Parent-of-Or Effect. vest Ophthalmol V Sc 2018 Aug 1;59(10):4054-4064. do 10.1167/vs.18-24082.
DG SA, Shaaban S, Tuysuz B, Elcglu NH, Chan WM, Robson CD, Ecklund K, Gette NM, Hamzaoglu A, Tayfun GA, TraboulsE Engle EC. Recesse MYF5 Mutatns Cause External Ophthalmopleg, R, and Vertebral Anomals. Am J Hum Genet. 2018 Jul 5;103(1):115-124. do 10.1016/j.ajhg.2018.05.003. Epub 2018 Jun 7.
Thomas MG, Maconach GDE, Constantescu CS, Chan WM, Barry B, Haund M, Sheth V, Kuht HJ, Deen RA, Haraswar S, Engle EC, Gottlob Congenal monocular elevatn defncy assocted wh a novel TUBB3 gene varnt. Br J Ophthalmol. 2020 Apr;104(4):547-550. do 10.1136/bjophthalmol-2019-314293. Epub 2019 Jul 13.
Heary G, Macknon S, Elltt A, Barry BJ, Engle EC, Hunter DG. Outcomes of strabmus surgery genetally confmed congenal fros of the extraocular muscles. J AAPOS. 2019 Oct;23(5):253.e1-253.e6. do 10.1016/j.jaapos.2019.05.018. Epub 2019 Sep 18.
SadeghN, Hutchson E, Van Ryz C, FzGbon EJ, Butman JA, Webb BD, Fac F, Brooks BP, Colls FS, Jabs EW, Engle EC, Manol PrpaolC; Moebs Syndrome Research Consortm. Bra phenotypg Moebs syndrome and other congenal facl weakness dorders by dfusn MRmorphometry. Bra Commun. 2020;2(1):fcaa014. do 10.1093/bracomms/fcaa014. Epub 2020 Feb 14.
Webb BD, Manol Engle EC, Jabs EW. A framework for the evaluatn of patnts wh congenal facl weakness. Orphanet J Rare D. 2021 Apr 7;16(1):158. do 10.1186/s13023-021-01736-1.
Jurgens JA, Barry BJ, Leme G, Chan WM, Whman MC, Shaaban S, Robson CD, MacKnon S, England EM, McMlan HJ, Kelly C, Pratt BM; Care4Rare Canada Consortm; O'Donnell-Lur A, MacArthur DG, Boycott KM, Hunter DG, Engle EC. Novel varnts TUBA1A cause congenal fros of the extraocular muscles wh or whout malformatns of cortal bra development. Eur J Hum Genet. 2021 May;29(5):816-826. do 10.1038/s41431-020-00804-7. Epub 2021 Mar 1.
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03059420Test