المؤلفون: Anna N. Belova, Gennadii E. Sheiko, Vera N. Grigoryeva, Evgenij A. Kliuev, Marina V. Rasteryaeva

المصدر: Клинический разбор в общей медицине, Vol 5, Iss 8, Pp 96-101 (2024)

مصطلحات موضوعية: fourth cranial (trochlear) nerve, isolated palsy, diplopia, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://klin-razbor.ru/en/archive/2024/vol-5-8-2024/isolated-trochlear-nerve-palsy-case-report-and-modern-considerations_6927/?element; https://doaj.org/toc/2713-2552

URL الوصول: https://doaj.org/article/b415b48c3ce64424af12f0fe61f3a50f

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: Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. doi: 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12.
Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. J Clin Endocrinol Metab. 2015 Mar;100(3):E473-7. doi: 10.1210/jc.2014-4107. Epub 2015 Jan 5.
MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology. 2014 Jul;121(7):1461-8. doi: 10.1016/j.ophtha.2014.01.006. Epub 2014 Mar 6.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol. 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392.
Graeber CP, Hunter DG, Engle EC. The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):427-37. doi: 10.3109/08820538.2013.825288.
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011.
Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet A. 2010 Jan;152A(1):215-7. doi: 10.1002/ajmg.a.33168. No abstract available.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bonnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.
Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Genet. 2019 Sep 15;28(18):3113-3125. doi: 10.1093/hmg/ddz137.
Grant PE, Im K, Ahtam B, Laurentys CT, Chan WM, Brainard M, Chew S, Drottar M, Robson CD, Drmic I, Engle EC. Altered White Matter Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 Jul 22;29(8):3561-3576. doi: 10.1093/cercor/bhy231.
Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW; Strabismus Genetics Research Consortium; Hunter DG, Mackey DA, Engle EC. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4054-4064. doi: 10.1167/iovs.18-24082.
Di Gioia SA, Shaaban S, Tuysuz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet. 2018 Jul 5;103(1):115-124. doi: 10.1016/j.ajhg.2018.05.003. Epub 2018 Jun 7.
Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I. Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant. Br J Ophthalmol. 2020 Apr;104(4):547-550. doi: 10.1136/bjophthalmol-2019-314293. Epub 2019 Jul 13.
Heidary G, Mackinnon S, Elliott A, Barry BJ, Engle EC, Hunter DG. Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. J AAPOS. 2019 Oct;23(5):253.e1-253.e6. doi: 10.1016/j.jaapos.2019.05.018. Epub 2019 Sep 18.
Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD, Facio F, Brooks BP, Collins FS, Jabs EW, Engle EC, Manoli I, Pierpaoli C; Moebius Syndrome Research Consortium. Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun. 2020;2(1):fcaa014. doi: 10.1093/braincomms/fcaa014. Epub 2020 Feb 14.
Webb BD, Manoli I, Engle EC, Jabs EW. A framework for the evaluation of patients with congenital facial weakness. Orphanet J Rare Dis. 2021 Apr 7;16(1):158. doi: 10.1186/s13023-021-01736-1.
Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM; Care4Rare Canada Consortium; O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 May;29(5):816-826. doi: 10.1038/s41431-020-00804-7. Epub 2021 Mar 1.

المؤلفون: Demer, Joseph L, Clark, Robert A

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Humans, Trochlear Nerve Diseases, Oculomotor Muscles, Paralysis, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/10d251xs

المؤلفون: Miroslav Fimic, Patrick Haas, Jose Antonio Ortiz Rey, Marcos Tatagiba

المصدر: Frontiers in Oncology, Vol 14 (2024)

مصطلحات موضوعية: trochlear nerve, schwannoma, neurinoma, surgery, case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2024.1474372/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/e0c935d7f5144260a1570cfc1c5dd8bd

المؤلفون: Demer, Joseph, Clark, Robert

مصطلحات موضوعية: Adult, Atrophy, Cross-Sectional Studies, Humans, Oculomotor Muscles, Paralysis, Prospective Studies, Strabismus, Trochlear Nerve Diseases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5454p9ts

المؤلفون: Wei, Qi, Clark, Robert A, Demer, Joseph L

المصدر: Investigative Ophthalmology & Visual Science. 63(10)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Pediatric, Neurosciences, Humans, Oculomotor Muscles, Orbit, Paralysis, Retrospective Studies, Strabismus, Syndrome, Trochlear Nerve Diseases, comitance, hypertropia, machine learning, magnetic resonance imaging, sagging eye syndrome, superior oblique palsy, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6pj2z27r

المؤلفون: Worapot Srimanan, Somboon Panyakorn

المصدر: Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 47-55 (2024)

مصطلحات موضوعية: cranial nerve disease, varicella-zoster virus, trochlear nerve, herpes zoster ophthalmicus, endotheliitis, antiviral agents, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/535947; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/7c5fd31163154aeaa9d2e53e664f44f1

المؤلفون: Law, Megan X, Hoyt, Creig S, Horton, Jonathan C

المصدر: Journal of Neuro-Ophthalmology, vol Publish Ahead of Print, iss &NA

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Movements, Female, Humans, Middle Aged, Oculomotor Muscles, Ophthalmologic Surgical Procedures, Tendons, Treatment Outcome, Trochlear Nerve Diseases, Clinical Sciences, Neurosciences, Opthalmology and Optometry, Ophthalmology & Optometry, Clinical sciences, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2bk765z4
https://escholarship.org/content/qt2bk765z4/qt2bk765z4.pdf

المؤلفون: Jin Lei, Yu Li, Xueyan Wan, Junwen Wang, Chao You, Kai Zhao, Hongquan Niu

المصدر: Frontiers in Oncology, Vol 12 (2023)

مصطلحات موضوعية: intracranial schwannoma, trochlear nerve, intratumoral hemorrhage, neurosurgical oncology, subtemporal approach, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.1097155/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/3ccfbe71e3764b90bb8c274c1026b4fe

المؤلفون: Brissos, Júlio, Almeida, Guilherme, Louro, Marta, Leitão, Miguel, Alves, Francisco, Frazão, Sara, Santos, Cristina, Seldon, Raquel, Varandas, Gabriela

المصدر: Revista Sociedade Portuguesa de Oftalmologia; Vol. 47 No. 4 (2023); 240-244 ; Revista Sociedade Portuguesa de Oftalmologia; Vol. 47 N.º 4 (2023); 240-244 ; 1646-6950

مصطلحات موضوعية: Diplopia, Visual Field Tests, Oculomotor Muscles, Strabismus, Trochlear Nerve Diseases, Doenças do Nervo Troclear, Estrabismo, Músculos Oculomotores, Teste de Campo Visual

وصف الملف: application/pdf

Relation: https://revistas.rcaap.pt/oftalmologia/article/view/28268/22708; https://revistas.rcaap.pt/oftalmologia/article/view/28268

الاتاحة: https://revistas.rcaap.pt/oftalmologia/article/view/28268

المؤلفون: Vilares-Morgado, Rodrigo, Moleiro, Ana Filipa, Freitas-Costa, Paulo, Santos-Silva, Renato, Faria, Olinda, Falcão-Reis, Fernando, Breda, Jorge, Magalhães, Augusto

المصدر: Revista Sociedade Portuguesa de Oftalmologia; Vol. 47 No. 1 (2023); 56-63 ; Revista Sociedade Portuguesa de Oftalmologia; Vol. 47 N.º 1 (2023); 56-63 ; 1646-6950

مصطلحات موضوعية: Doenças do Nervo Troclear/cirurgia, Procedimentos Cirúrgicos Oftalmológicos, Ophthalmologic Surgical Procedures, Trochlear Nerve Diseases/surgery

وصف الملف: application/pdf

Relation: https://revistas.rcaap.pt/oftalmologia/article/view/28787/21941; https://revistas.rcaap.pt/oftalmologia/article/view/28787

الاتاحة: https://revistas.rcaap.pt/oftalmologia/article/view/28787

المؤلفون: Ryan Spiteri, Sousann Barakat, Meri Vukicevic

مصطلحات موضوعية: Ophthalmology and optometry, Abducens nerve palsy, COVID-19, diplopia, neuro-ophthalmological complications, oculomotor nerve disease, oculomotor nerve palsy, ophthalmoplegia, SARS-CoV-2 infection, trochlear nerve palsy

Relation: https://figshare.com/articles/journal_contribution/COVID-19_and_sudden-onset_ocular_neurogenic_palsy_in_prior_healthy_patients_a_systematic_review/24418615

الاتاحة: https://doi.org/10.26181/24418615.v1
https://figshare.com/articles/journal_contribution/COVID-19_and_sudden-onset_ocular_neurogenic_palsy_in_prior_healthy_patients_a_systematic_review/24418615

المؤلفون: Curi, Ian, Souza-Dias, Carlos

المصدر: Arquivos Brasileiros de Oftalmologia. August 2021 84(4)

مصطلحات موضوعية: Synkinesis, Trochlear nerve, Cranial nerves/abnormalities, Oculomotor muscles, Ocular motility disorders/congenital

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492021000400374

المؤلفون: Keiko Kunimi, Toshiaki Goseki, 國見 敬子, 後関 利明

المصدر: 神経眼科 / Neuro-Ophthalmology Japan. 2023, 40(1):24

المصدر: Measuring Cyclotorsion on Scanning Laser Ophthalmoscopy (SLO)-Fundus Photographs Using the Integrated Algorithm by Heidelberg Spectralis
Lengwiler F, Rappoport D, Jaggi GP, Landau K, Traber GL. Reliability of Cyclotorsion measurements using Scanning Laser Ophthalmoscopy imaging in healthy subjects: the CySLO study. Br J Ophthalmol. 2018 Apr;102(4):535-538. doi: 10.1136/bjophthalmol-2017-310396. Epub 2017 Aug 1.

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

المؤلفون: Suh, Soh, Le, Alan, Demer, Joseph, Clark, Robert

المصدر: Investigative Ophthalmology & Visual Science. 57(13)

مصطلحات موضوعية: Adolescent, Adult, Aged, Atrophy, Eye Movements, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Oculomotor Muscles, Prospective Studies, Trochlear Nerve Diseases, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5q93r0zq

المؤلفون: Yulek, Fatma, Demer, Joseph

المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 20(4)

مصطلحات موضوعية: Humans, Magnetic Resonance Imaging, Neurilemmoma, Oculomotor Muscles, Oculomotor Nerve, Retrospective Studies, Strabismus, Trochlear Nerve

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14f4v318
https://escholarship.org/content/qt14f4v318/qt14f4v318.pdf

المؤلفون: Suh, Soh, Le, Alan, Demer, Joseph, Clark, Robert

المصدر: Ophthalmology. 123(6)

مصطلحات موضوعية: Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Child, Child, Preschool, Diplopia, Eye Movements, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Muscle Contraction, Oculomotor Muscles, Prospective Studies, Strabismus, Trochlear Nerve Diseases, Vision, Binocular

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5854d7bm

المؤلفون: Remya Edachery

المصدر: Kerala Journal of Ophthalmology, Vol 33, Iss 3, Pp 326-330 (2021)

مصطلحات موضوعية: brachial plexus injury, horner's syndrome, trochlear nerve palsy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.kjophthal.com/article.asp?issn=0976-6677;year=2021;volume=33;issue=3;spage=326;epage=330;aulast=Edachery; https://doaj.org/toc/0976-6677

URL الوصول: https://doaj.org/article/cc84553362274dfdab7284c414c3cd2f