المؤلفون: Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao, Nan-Kai Wang

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Autosomal dominant optic atrophy, Brain aneurysm, OPA1, Exome sequencing, Microarray, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/b54e2527394f4f66959c6e7cd58b701a

المؤلفون: Marco Lombardo, Andrea Cusumano, Raffaele Mancino, Francesco Aiello, Roberto Pietro Sorge, Carlo Nucci, Massimo Cesareo

المصدر: Journal of Clinical Medicine, Vol 13, Iss 7, p 1971 (2024)

مصطلحات موضوعية: optic neuropathies, ADOA, autosomal dominant optic atrophy, SWAP, short wavelength automated perimetry, OCT, Medicine

Relation: https://www.mdpi.com/2077-0383/13/7/1971; https://doaj.org/toc/2077-0383; https://doaj.org/article/680bd433c1774251a375b0fe7d2ef799

الاتاحة: https://doi.org/10.3390/jcm13071971
https://doaj.org/article/680bd433c1774251a375b0fe7d2ef799

المؤلفون: Marta García-López, Lydia Jiménez-Vicente, Raquel González-Jabardo, Helena Dorado, Irene Gómez-Manjón, Miguel Ángel Martín, Carmen Ayuso, Joaquín Arenas, María Esther Gallardo

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 13, p 7240 (2024)

مصطلحات موضوعية: iPSCs, autosomal dominant optic atrophy, ADOA, OPA1, retinal ganglion cells, RGCs, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/13/7240; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/f96970df38664e818dc0d297b69857cb

الاتاحة: https://doi.org/10.3390/ijms25137240
https://doaj.org/article/f96970df38664e818dc0d297b69857cb

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: Case, Aaron W, OD, Sayomac, Lovelee E, OD, Anderson, Matthew J, OD

المصدر: Optometric Clinical Practice

مصطلحات موضوعية: Kjer's, Autosomal Dominant Optic Atrophy, ADO Plus, Pallor, Optic Atrophy, Autosomal Dominant, Optic Nerve Diseases, Color Vision Defects, Mutation, Membrane Proteins, Eye Diseases, Nervous System Diseases, Neurology, Ophthalmology, Optometry, Other Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://athenaeum.uiw.edu/optometric_clinical_practice/vol5/iss2/5; https://athenaeum.uiw.edu/context/optometric_clinical_practice/article/1055/viewcontent/1055.pdf; https://athenaeum.uiw.edu/context/optometric_clinical_practice/article/1055/filename/0/type/additional/viewcontent/cogwhell_like_kenetic_tremor.mp4

الاتاحة: https://athenaeum.uiw.edu/optometric_clinical_practice/vol5/iss2/5
https://doi.org/10.37685/uiwlibraries.2575-7717.5.2.1012
https://athenaeum.uiw.edu/context/optometric_clinical_practice/article/1055/viewcontent/1055.pdf
https://athenaeum.uiw.edu/context/optometric_clinical_practice/article/1055/filename/0/type/additional/viewcontent/cogwhell_like_kenetic_tremor.mp4

المؤلفون: Eckmann-Hansen, Christina, Bek, Toke, Sander, Birgit, Larsen, Michael

المصدر: Eckmann-Hansen , C , Bek , T , Sander , B & Larsen , M 2023 , ' Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy ' , Investigative Ophthalmology & Visual Science , vol. 64 , no. 10 , 32 . https://doi.org/10.1167/iovs.64.10.32

مصطلحات موضوعية: autosomal dominant optic atrophy (ADOA), inner retinal morphology, visual development, Humans, Child, Preschool, Retina, Visual Acuity, Retinal Ganglion Cells, Birth Weight, Optic Atrophy, Autosomal Dominant/genetics, Tomography, Optical Coherence/methods, GTP Phosphohydrolases/genetics, Infant, Newborn

Relation: https://pure.au.dk/portal/en/publications/b9bcf144-63e7-4187-aeb6-a45ad4fc4856

الاتاحة: https://pure.au.dk/portal/en/publications/b9bcf144-63e7-4187-aeb6-a45ad4fc4856
https://doi.org/10.1167/iovs.64.10.32
http://www.scopus.com/inward/record.url?scp=85165934539&partnerID=8YFLogxK

المؤلفون: Antonis Roussos, Katerina Kitopoulou, Fivos Borbolis, Konstantinos Palikaras

المصدر: Biomolecules; Volume 13; Issue 3; Pages: 478

مصطلحات موضوعية: ageing, Alzheimer’s disease, amyotrophic lateral sclerosis, Autosomal Dominant Optic Atrophy, C. elegans, Cockayne syndrome, Huntington’s disease, mitochondria, neurodegeneration, Parkinson’s disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Medicine; https://dx.doi.org/10.3390/biom13030478

الاتاحة: https://doi.org/10.3390/biom13030478

المؤلفون: Zeviani M., Carelli V.

المساهمون: Zeviani M., Carelli V.

مصطلحات موضوعية: Ataxia and retinitis pigmentosa (NARP), Autosomal dominant optic atrophy (ADOA), Kearns-Sayre syndrome, Leber’s hereditary optic neuropathy (LHON), Mitochondrial disorder, Mitochondrial DNA, MtDNA heteroplasmic deletion, Neurogenic muscle weakne, Optic atrophy, Retina, Retinitis pigmentosa, Animal, DNA, Mitochondrial, Human, Mitochondria, Mitochondrial Disease, Hereditary, Leber, Retinal Diseases

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35008635; info:eu-repo/semantics/altIdentifier/wos/WOS:000741736600001; volume:23; issue:1; firstpage:1; lastpage:33; numberofpages:33; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11585/864469; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121582783; https://doi.org/10.3390/ijms23010210

الاتاحة: http://hdl.handle.net/11585/864469
https://doi.org/10.3390/ijms23010210

المؤلفون: Eckmann-Hansen, Christina, Bek, Toke, Sander, Birgit, Larsen, Michael

المصدر: Eckmann-Hansen , C , Bek , T , Sander , B & Larsen , M 2022 , ' Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy ' , Acta Ophthalmologica , vol. 100 , no. 7 , pp. 797-804 . https://doi.org/10.1111/aos.15102

مصطلحات موضوعية: autosomal dominant optic atrophy, CVAQC, NEI-VFQ, quality of life, visual function, Cross-Sectional Studies, Humans, Optic Atrophy, Autosomal Dominant/diagnosis, Vision, Ocular, Adult, Surveys and Questionnaires, Child, GTP Phosphohydrolases/genetics

وصف الملف: application/pdf

الاتاحة: https://pure.au.dk/portal/da/publications/visionrelated-quality-of-life-and-visual-ability-in-patients-with-autosomal-dominant-optic-atrophy(56ac0b92-a78f-4482-a3f3-3648c002f36c).html
https://doi.org/10.1111/aos.15102
https://pure.au.dk/ws/files/330387073/Acta_Ophthalmologica_2022_Eckmann_Hansen_Vision_related_quality_of_life_and_visual_ability_in_patients_with_autosomal.pdf
http://www.scopus.com/inward/record.url?scp=85124527778&partnerID=8YFLogxK

المؤلفون: Chao-Wen Lin, Ching-Wen Huang, Allen Chilun Luo, Yuh-Tsyr Chou, Yu-Shu Huang, Pei-Lung Chen, Ta-Ching Chen

المصدر: Genes; Volume 12; Issue 9; Pages: 1378

مصطلحات موضوعية: hereditary optic neuropathy, next-generation sequencing, autosomal dominant optic atrophy, OPA1, WFS1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12091378

الاتاحة: https://doi.org/10.3390/genes12091378

المؤلفون: Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B, Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John

المصدر: Molecular Therapy / Nucleic Acids 26, 1186 - 1197 (2021). doi:10.1016/j.omtn.2021.10.019

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, ADOA, Autosomal Dominant Optic Atrophy, DOA, Dominant Optic Atrophy, ExSpeU1, OPA1, Optic Atrophy Type 1, U1 snRNA, gene therapy, splicing

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:34853716; info:eu-repo/semantics/altIdentifier/issn/2162-2531; https://pub.dzne.de/record/163671; https://pub.dzne.de/search?p=id:%22DZNE-2022-00417%22

الاتاحة: https://pub.dzne.de/record/163671
https://pub.dzne.de/search?p=id:%22DZNE-2022-00417%22

المؤلفون: Almeida, Otília da Anunciação Cardoso d'

المساهمون: Castelo-Branco, Miguel

المصدر: D'ALMEIDA, Otília da Anunciação Cardoso - Neural basis of visual cortical reorganization mechanisms after retinal injury in optic neuropathies. Coimbra : [s.n.], 2017. Tese de doutoramento. Disponível na WWW: http://hdl.handle.net/10316/32387

مصطلحات موضوعية: Autosomal Dominant Optic Atrophy, Cortical plasticity, Cortical thickness, Diabetes Mellitus, Atrofia Autossómica Ótica Dominante, Plasticidade cortical, Neuropatia Hereditária Ótica de Leber

الاتاحة: http://hdl.handle.net/10316/32387

المؤلفون: Megan A. Kasetty, Andre J. Witkin, Thomas R. Hedges

المصدر: RETINAL Cases & Brief Reports. 16:561-564

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, medicine.medical_treatment, Cellular differentiation, Autosomal Dominant Optic Atrophy, Transplantation, Autologous, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ophthalmology, medicine, Humans, 0101 mathematics, Optic nerve diseases, business.industry, 010102 general mathematics, Mesenchymal stem cell, Epiretinal Membrane, Mesenchymal Stem Cells, Retinal, General Medicine, Stem-cell therapy, medicine.disease, eye diseases, chemistry, Intravitreal Injections, 030221 ophthalmology & optometry, Stem cell, Epiretinal membrane, business, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc574068970f68b883ef20cf144a4872
https://doi.org/10.1097/icb.0000000000001032

المؤلفون: Marc Hardwick (9643598), Dominic Heath (9643601), Romi Saha (9643604), Sarah Cooper (340091)

مصطلحات موضوعية: Medicine, Sociology, Science Policy, Mental Health, Environmental Sciences not elsewhere classified, Charles-Bonnet syndrome, visual release hallucinations, colour hallucinations, colour vision Parkinson’s disease, autosomal dominant optic atrophy

Relation: https://figshare.com/articles/online_resource/Colour-centred_Release_Hallucinations_in_a_Patient_with_Early_Parkinson_s_Disease_and_Unrecognised_Autosomal_Dominant_Optic_Atrophy/13238546

الاتاحة: https://doi.org/10.6084/m9.figshare.13238546.v2

المؤلفون: Dan Milea, Pranati Ahuja, Subahari Raviskanthan, Andrew G. Lee, Peter W. Mortensen

المصدر: Canadian Journal of Ophthalmology. 57:e96-e100

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Delayed Diagnosis, business.industry, Autosomal Dominant Optic Atrophy, General Medicine, Delayed diagnosis, Pedigree, Optic Atrophy, Ophthalmology, Mutation, Optic Atrophy, Autosomal Dominant, Humans, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c87e6907a879798a14d1e7e41bb66d
https://doi.org/10.1016/j.jcjo.2021.08.007

المؤلفون: Lynch, DS, Loh, SH, Harley, J, Noyce, AJ, Martins, LM, Wood, NW, Houlden, H, Plun-Favreau, H

مصطلحات موضوعية: Parkinson disease, mitophagy, autosomal dominant optic atrophy

Relation: Neurology Genetics, 2017, 3 (5), pp. e188-e188; http://hdl.handle.net/2381/45343

الاتاحة: http://hdl.handle.net/2381/45343
https://doi.org/10.1212/NXG.0000000000000188

المؤلفون: Bernd Wissinger, Christoph Jüschke, Thomas Klopstock, Marta Owczarek-Lipska, John Neidhardt, Claudia B. Catarino

المساهمون: Faculteit Medische Wetenschappen/UMCG

المصدر: Molecular Therapy / Nucleic Acids 26, 1186-1197 (2021). doi:10.1016/j.omtn.2021.10.019
Molecular therapy-Nucleic acids, 26, 1186-1197. Elsevier
Molecular Therapy: Nucleic Acids, Vol 26, Iss, Pp 1186-1197 (2021)

مصطلحات موضوعية: EXPRESSION, endocrine system, ExSpeU1, U1 snRNA, ISOFORMS, DOA, RM1-950, Biology, GENE THERAPEUTIC APPROACH, medicine.disease_cause, OPA1, DISEASE, ADOA, splicing, Exon, Drug Discovery, Optic Atrophy Type 1, medicine, splice, STRATEGY, ddc:610, Dominant Optic Atrophy, MUTATION, Gene, Genetics, SPECTRUM, Mutation, Intron, SMALL NUCLEAR-RNA, medicine.disease, CORRECT, gene therapy, eye diseases, LONG, RNA splicing, Molecular Medicine, Optic Atrophy 1, Therapeutics. Pharmacology, Haploinsufficiency, Autosomal Dominant Optic Atrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::294188787a8003d0c56a232abb25346e
https://doi.org/10.1016/j.omtn.2021.10.019

المؤلفون: Tin Aung, Joanna Milanowska, Tomasz Żarnowski, Urszula Łukasik, Chiea Chuen Khor, Dominika Wróbel-Dudzińska, Janusz Kocki, Piotr Milanowski, Ewa Kosior-Jarecka

المصدر: Ophthalmic Genetics. 43:42-47

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Open angle glaucoma, business.industry, Autosomal Dominant Optic Atrophy, MFN2, Retinal ganglion, eye diseases, Ophthalmology, mitochondrial fusion, Normal tension glaucoma, Pediatrics, Perinatology and Child Health, Optic nerve, medicine, MFN1, sense organs, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4521f4bd2705ec1e24b2083e306e31b6
https://doi.org/10.1080/13816810.2021.1970197

المؤلفون: DS Lynch, SH Loh, J Harley, AJ Noyce, LM Martins, NW Wood, H Houlden, H Plun-Favreau

مصطلحات موضوعية: Uncategorized, Parkinson disease, mitophagy, autosomal dominant optic atrophy

Relation: 2381/45343; https://figshare.com/articles/journal_contribution/Nonsyndromic_Parkinson_disease_in_a_family_with_autosomal_dominant_optic_atrophy_due_to_OPA1_mutations/10203935

الاتاحة: https://figshare.com/articles/journal_contribution/Nonsyndromic_Parkinson_disease_in_a_family_with_autosomal_dominant_optic_atrophy_due_to_OPA1_mutations/10203935

المؤلفون: Akira Murakami, Hiroto Ishikawa, Osamu Mimura, Yoshihiko Isshiki, 一色 佳彦, 三村 治, 村上 晶, 石川 裕人

المصدر: 神経眼科 / Neuro-Ophthalmology Japan. 2018, 35(1):48