المساهمون: Yuri Seo, Hyun Taek Lim, Byung Joo Lee, Jinu Han, Seo, Yuri

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities / genetics, Adolescent, Humans, Male, Metalloendopeptidases / genetics, Mutation, Optic Atrophy* / diagnosis, Optic Atrophy* / genetics, Optic Atrophy* / pathology, Optic Atrophy, Autosomal Dominant, Paraplegia / genetics, Phenotype, Spastic Paraplegia, Hereditary* / complications, Hereditary* / diagnosis, Hereditary* / genetics, SPG7, autosomal dominant optic atrophy, infantile nystagmus syndrome

Relation: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; J00091; OAK-2023-00601; OAK-2023-00602; https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059; T202301866; AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.191(2) : 582-585, 2023-02

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059
https://doi.org/10.1002/ajmg.a.63037
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63037

المؤلفون: Monteiro, Mário Luiz Ribeiro, Cunha, Leonardo Provetti, Vessani, Roberto Murad

المصدر: Arquivos Brasileiros de Oftalmologia. August 2008 71(4)

مصطلحات موضوعية: Tomography, optical coherence/standards, Nerve fiber/ultrastructure, Retina/ultrastructure, Optic atrophy/diagnosis, Case-control studies

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492008000400013

المؤلفون: Chaow Charoenkijkajorn, Junsang Cho, Andrew G. Lee

المساهمون: Department of Ophthalmology (CC), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, Department of Ophthalmology (JC), Vanderbilt Eye Institute, Nashville, Tennessee, Departments of Ophthalmology, Neurology, and Neurosurgery (AGL), Weill Cornell Medicine, New York, New York, Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas, University of Texas MD Anderson Cancer Center (AGL), Houston, Texas, Texas A and M College of Medicine (AGL), Bryan, Texas, and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa

المصدر: Journal of Neuro-Ophthalmology, December 2022, Volume 42, Issue 4

مصطلحات موضوعية: Humans, Optic Atrophy / diagnosis, Optic Atrophy / etiology

Relation: https://collections.lib.utah.edu/ark:/87278/s6113xf3

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6113xf3

المساهمون: College of Medicine, Dept. of Ophthalmology, Jinu Han, Do Wook Kim, Chul-Ho Lee, Sueng-Han Han, Kim, Do Wook, Han, Seung Han, Han, Jin U

مصطلحات موضوعية: Adolescent, Electroencephalography, Electromyography, Female, Humans, Magnetic Resonance Imaging, Optic Atrophy/diagnosis, Optic Atrophy/etiology, Pantothenate Kinase-Associated Neurodegeneration/complications, Pantothenate Kinase-Associated Neurodegeneration/diagnosis, Visual Acuity

وصف الملف: 182~186

Relation: JOURNAL OF NEURO-OPHTHALMOLOGY; J01630; OAK-2016-03221; https://ir.ymlib.yonsei.ac.kr/handle/22282913/147107; http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00041327-201606000-00016&LSLINK=80&D=ovft; T201602102; JOURNAL OF NEURO-OPHTHALMOLOGY, Vol.36(2) : 182-186, 2016

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/147107
https://doi.org/10.1097/WNO.0000000000000335
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00041327-201606000-00016&LSLINK=80&D=ovft

المساهمون: Jinu Han, Young-Mock Lee, Sang Myung Kim, So Young Han, Jong Bok Lee, Sueng-Han Han, Lee, Young Mock, Lee, Jong Bok, Han, So Young, Han, Seung Han, Han, Jin U

مصطلحات موضوعية: Age of Onset, Blepharoptosis/diagnosis, Blepharoptosis/genetics, Child, Preschool, DNA, Mitochondrial/genetics, Female, Genetic Association Studies, Humans, Infant, Leigh Disease/diagnosis, Leigh Disease/genetics, Magnetic Resonance Imaging, Male, Membrane Proteins/genetics, Mitochondrial Diseases/diagnosis, Mitochondrial Diseases/genetics, Mitochondrial Proteins/genetics, Mutation, Nystagmus, Pathologic/diagnosis, Pathologic/genetics, Optic Atrophy/diagnosis, Optic Atrophy/genetics, Prognosis, Retinitis Pigmentosa/diagnosis, Retinitis Pigmentosa/genetics, Retrospective Studies, Strabismus/diagnosis

وصف الملف: 528~535

Relation: BRITISH JOURNAL OF OPHTHALMOLOGY; J00412; OAK-2015-00565; https://ir.ymlib.yonsei.ac.kr/handle/22282913/139725; http://bjo.bmj.com/content/99/4/528.long; T201500837; BRITISH JOURNAL OF OPHTHALMOLOGY, Vol.99(4) : 528-535, 2015

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/139725
https://doi.org/10.1136/bjophthalmol-2014-305704
http://bjo.bmj.com/content/99/4/528.long

المؤلفون: Elizabeth R Kellom, Barry Wolf, Gregory M Rice, Kimberly E Stepien

المصدر: Journal of Neuro-Ophthalmology, March 2021, Volume 41, Issue 1

مصطلحات موضوعية: Biotin / therapeutic use, Biotinidase / blood, Biotinidase Deficiency / diagnosis, Biotinidase Deficiency / drug therapy, Biotinidase Deficiency / genetics, Humans, Male, Middle Aged, Mutation / genetics, Optic Atrophy / diagnosis, Optic Atrophy / drug therapy, Optic Atrophy / physiopathology, Vision Disorders / diagnosis, Vision Disorders / drug therapy, Vision Disorders / physiopathology, Visual Acuity / physiology, Visual Fields / physiology, Vitamin B Complex / therapeutic use, Whole Exome Sequencing

Relation: https://collections.lib.utah.edu/ark:/87278/s64th7jj

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s64th7jj

المؤلفون: Golnik, Karl

المصدر: Neurology

مصطلحات موضوعية: Diagnosis, Differential, History, Humans, Optic Atrophy (diagnosis, physiopathology), Optic Disk (pathology), Visual Acuity (physiology), Visual Fields (physiology)

Time: 20th Century

Relation: https://scholar.barrowneuro.org/neurology/1594; https://doi.org/10.1016/j.ncl.2010.03.005

الاتاحة: https://scholar.barrowneuro.org/neurology/1594
https://doi.org/10.1016/j.ncl.2010.03.005

المؤلفون: Lee, Andrew G, Chau, Felix Y, Golnik, Karl C, Kardon, Randy H, Wall, Michael

المصدر: Neurology

مصطلحات موضوعية: Brain Neoplasms (complications, diagnosis), Diagnostic Techniques, Ophthalmological, Humans, Magnetic Resonance Imaging, Middle Aged, Nerve Compression Syndromes (complications, Optic Atrophy (diagnosis, etiology), Retrospective Studies, Vision Disorders (diagnosis

Relation: https://scholar.barrowneuro.org/neurology/1631; https://doi.org/10.1016/j.ophtha.2004.12.009

الاتاحة: https://scholar.barrowneuro.org/neurology/1631
https://doi.org/10.1016/j.ophtha.2004.12.009

المؤلفون: Sharkia, Rajech, Wierenga, Klaas J, Plecko, Barbara, Klein, Andrea, Abela, Lucia, Hengel, Holger, Schöls, Ludger, Shalev, Stavit, Khayat, Morad, Mahajnah, Muhammad, Spiegel, Ronen, Kessel, Amit, Azem, Abdussalam, Bertini, Enrico, Carrozzo, Rosalba, Torraco, Alessandra, Goffrini, Paola, Ceccatelli Berti, Camilla, McCormick, M Eileen

المصدر: Journal of inherited metabolic disease 42(2), 264-275 (2019). doi:10.1002/jimd.12022

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Aconitate Hydratase: deficiency, Aconitate Hydratase: genetics, Adolescent, Ataxia: genetics, Cerebellum: pathology, Child, Preschool, Citric Acid Cycle, Exome: genetics, Female, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Internationality, Magnetic Resonance Imaging, Male, Microcephaly: genetics, Mutation, Missense, Neurodegenerative Diseases: diagnosis, Neurodegenerative Diseases: genetics, Optic Atrophy: diagnosis, Optic Atrophy: genetics, Retinal Dystrophies: diagnosis, Retinal Dystrophies: genetics, Syndrome, Young Adult

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0141-8955; info:eu-repo/semantics/altIdentifier/pmid/pmid:30689204; info:eu-repo/semantics/altIdentifier/issn/1573-2665; https://pub.dzne.de/record/140558; https://pub.dzne.de/search?p=id:%22DZNE-2020-06880%22

الاتاحة: https://pub.dzne.de/record/140558
https://pub.dzne.de/search?p=id:%22DZNE-2020-06880%22

المؤلفون: Sousa, Rafael Miranda

Thesis Advisors: Monteiro, Mario Luiz Ribeiro

مصطلحات موضوعية: Atrofia óptica/diagnóstico, Evoked potentials visual, Fibras nervosas/patologia, Nerve fibers/pathology, Optic atrophy/diagnosis, Optic chiasm/pathology, Potenciais evocados visuais, Quiasma óptico/patologia, Testes de campo visual/métodos, Tomografia de coerência óptica/métodos, Tomography optical coherence/methods, Visual field tests/methods

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/5/5149/tde-07082017-081956/

المؤلفون: Rafael Miranda Sousa

Thesis Advisors: Mario Luiz Ribeiro Monteiro, Ralph Cohen, Fabio Ejzenbaum, Kenzo Hokazono, Leandro Cabral Zacharias

المصدر: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

مصطلحات موضوعية: Atrofia óptica/diagnóstico, Fibras nervosas/patologia, Potenciais evocados visuais, Quiasma óptico/patologia, Testes de campo visual/métodos, Tomografia de coerência óptica/métodos, Evoked potentials visual, Nerve fibers/pathology, Optic atrophy/diagnosis, Optic chiasm/pathology, Tomography optical coherence/methods, Visual field tests/methods

الاتاحة: http://www.teses.usp.br/teses/disponiveis/5/5149/tde-07082017-081956/

المؤلفون: Spaide, R. F., Jonas, J. B.

المصدر: Journal Articles

مصطلحات موضوعية: Angioid Streaks/diagnosis/etiology, Bruch Membrane/*pathology, Choroid Diseases/*etiology/pathology, Female, Humans, Male, Middle Aged, Myopia, Degenerative/etiology, Optic Atrophy/diagnosis/*etiology, Pseudoxanthoma Elasticum/*complications/diagnosis, Retinal Pigment Epithelium/*pathology, Retrospective Studies, Tomography, Optical Coherence, Ophthalmology

Relation: https://academicworks.medicine.hofstra.edu/publications/1677; https://my.hofstra.edu/hofapps/applications/ezproxy/indexMed.jsp?db_proxy=m&&db_url=ovidsp.ovid.com/ovidweb.cgi?T=JS%26CSC=Y%26NEWS=N%26PAGE=fulltext%26AN=00006982-201508000-00002%26D=ovft%26PDF=y

الاتاحة: https://academicworks.medicine.hofstra.edu/publications/1677
https://my.hofstra.edu/hofapps/applications/ezproxy/indexMed.jsp?db_proxy=m&&db_url=ovidsp.ovid.com/ovidweb.cgi?T=JS%26CSC=Y%26NEWS=N%26PAGE=fulltext%26AN=00006982-201508000-00002%26D=ovft%26PDF=y

المؤلفون: Bettencourt, Conceição, de Yébenes, Justo García, Sobrido, María-Jesús, Bevova, Marianna R, Jain, Shushant, Bugiani, Marianna, Heutink, Peter, Rizzu, Patrizia, López-Sendón, José Luis, Shomroni, Orr, Zhang, Xingqian, Qian, Shu-Bing, Bakker, Ingrid M C, Heetveld, Sasja, Ros, Raquel, Quintáns, Beatriz

المصدر: The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Diagnosis, Differential, Family, Female, Heterozygote, Humans, Intellectual Disability: diagnosis, Intellectual Disability: genetics, Intellectual Disability: physiopathology, Male, Muscle Spasticity: diagnosis, Muscle Spasticity: genetics, Muscle Spasticity: physiopathology, Mutation, Optic Atrophy: diagnosis, Optic Atrophy: genetics, Optic Atrophy: physiopathology, Pedigree, Spinocerebellar Ataxias: diagnosis, Spinocerebellar Ataxias: genetics, Spinocerebellar Ataxias: physiopathology, Ubiquitin-Protein Ligases: genetics, STUB1 protein, human, Ubiquitin-Protein Ligases

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1473-4222; info:eu-repo/semantics/altIdentifier/issn/1473-4230; info:eu-repo/semantics/altIdentifier/pmid/pmid:25592071; https://pub.dzne.de/record/137937; https://pub.dzne.de/search?p=id:%22DZNE-2020-04259%22

الاتاحة: https://pub.dzne.de/record/137937
https://pub.dzne.de/search?p=id:%22DZNE-2020-04259%22

المؤلفون: Hokazono, Kenzo

Thesis Advisors: Monteiro, Mario Luiz Ribeiro

مصطلحات موضوعية: Atrofia óptica/diagnóstico, Electroretinography, Eletrorretinografia, Esclerose múltipla, Multiple sclerosis, Neuromielite óptica, Neuromyelitis optica, Optic atrophy/diagnosis, Optic chiasm/pathology, Optical coherence tomography, Quiasma óptico/patologia, Tomografia de coerência óptica

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/5/5149/tde-09062014-101946/

المؤلفون: Kenzo Hokazono

Thesis Advisors: Mario Luiz Ribeiro Monteiro, Leonardo Provetti Cunha, Carlos Augusto Moreira Júnior, Paula Yuri Sacai Munhoz, Walter Yukihiko Takahashi

المصدر: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

مصطلحات موضوعية: Atrofia óptica/diagnóstico, Eletrorretinografia, Esclerose múltipla, Neuromielite óptica, Quiasma óptico/patologia, Tomografia de coerência óptica, Electroretinography, Multiple sclerosis, Neuromyelitis optica, Optic atrophy/diagnosis, Optic chiasm/pathology, Optical coherence tomography

الاتاحة: http://www.teses.usp.br/teses/disponiveis/5/5149/tde-09062014-101946/

المؤلفون: Vincent, A., Munier, F.L., Vandenhoven, C.C., Wright, T., Westall, C.A., Héon, E.

المصدر: Retina, vol. 32, no. 8, pp. 1643-1651

مصطلحات موضوعية: Adult, Aged, Collagen/genetics, Corneal Dystrophies, Hereditary/diagnosis, Disease Progression, Electrooculography, Electroretinography, Female, Humans, Male, Middle Aged, Optic Atrophy/diagnosis, Pedigree, Phenotype, Retina/physiopathology, Retinal Degeneration/diagnosis, Retinal Degeneration/genetics, Retinal Drusen/diagnosis, Retinal Pigment Epithelium/pathology, Tomography, Optical Coherence, Visual Acuity/physiology, Visual Fields/physiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/22277927; info:eu-repo/semantics/altIdentifier/eissn/1539-2864; https://serval.unil.ch/notice/serval:BIB_7F3F7BC8A534

الاتاحة: https://serval.unil.ch/notice/serval:BIB_7F3F7BC8A534
https://doi.org/10.1097/IAE.0b013e318240a574

المؤلفون: Roberto M. Vessani, Mário Luiz Ribeiro Monteiro, Leonardo Provetti Cunha

المصدر: Arquivos Brasileiros de Oftalmologia v.71 n.4 2008
Arquivos brasileiros de oftalmologia
Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO

مصطلحات موضوعية: Adult, medicine.medical_specialty, Time Factors, Adolescent, genetic structures, Nerve fiber layer, Nerve fiber, Case-control studies, Retina/ultrastructure, Retina, chemistry.chemical_compound, Young Adult, Optics, Atrophy, Nerve Fibers, Nerve fiber/ultrastructure, Optic atrophy/diagnosis, Optical coherence tomography, Ophthalmology, medicine, Humans, Prospective Studies, Aged, medicine.diagnostic_test, business.industry, Retinal, General Medicine, Middle Aged, medicine.disease, eye diseases, Optic Atrophy, medicine.anatomical_structure, Cross-Sectional Studies, chemistry, Case-Control Studies, Optic nerve, Tomography, optical coherence/standards, Chiasmal compression, sense organs, business, Tomography, Optical Coherence

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd10820f2a25c27695a2c73011e63563
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492008000400013

المؤلفون: Leal, Bruno Campêlo

Thesis Advisors: Monteiro, Mario Luiz Ribeiro

مصطلحات موضوعية: Atrofia óptica/diagnóstico, Células do gânglio retiniano, Diagnostic techniques ophthalmological, Laser/diagnostic use, Laser/uso diagnóstico, Optic atrophy/diagnosis, Retina, Retinal ganglion cells, Técnicas de diagnóstico oftalmológico, Tomografia de coerência óptica, Tomography optical coherence

وصف الملف: application/pdf

الاتاحة: http://www.teses.usp.br/teses/disponiveis/5/5149/tde-13092006-160053/

المؤلفون: Bruno Campêlo Leal

Thesis Advisors: Mario Luiz Ribeiro Monteiro, Milton Ruiz Alves, Ralph Cohen, Augusto Paranhos Júnior, Joyce Hisae Yamamoto

المصدر: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

مصطلحات موضوعية: Atrofia óptica/diagnóstico, Células do gânglio retiniano, Laser/uso diagnóstico, Retina, Técnicas de diagnóstico oftalmológico, Tomografia de coerência óptica, Diagnostic techniques ophthalmological, Laser/diagnostic use, Optic atrophy/diagnosis, Retinal ganglion cells, Tomography optical coherence

الاتاحة: http://www.teses.usp.br/teses/disponiveis/5/5149/tde-13092006-160053/

المؤلفون: Borruat, F. X., Green, W. T., Graham, E. M., Sweeney, M. G., Morgan-Hughes, J. A., Sanders, M. D.

المصدر: British Journal of Ophthalmology, vol. 76, no. 9, pp. 571-3

مصطلحات موضوعية: DNA, Mitochondrial/analysis Diagnosis, Differential Fluorescein Angiography Humans Magnetic Resonance Imaging Male Middle Aged Optic Atrophies, Hereditary/*diagnosis/genetics Optic Atrophy/diagnosis Optic Nerve/pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/1420066; info:eu-repo/semantics/altIdentifier/pissn/0007-1161; https://serval.unil.ch/notice/serval:BIB_E4A7F2C6AC9A

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E4A7F2C6AC9A
https://doi.org/10.1136/bjo.76.9.571