المؤلفون: Newman, Nancy J, Yu-Wai-Man, Patrick, Subramanian, Prem S, Moster, Mark L, Wang, An-Guor, Donahue, Sean P, Leroy, Bart P, Carelli, Valerio, Biousse, Valerie, Vignal-Clermont, Catherine, Sergott, Robert C, Sadun, Alfredo A, Rebolleda Fernández, Gema, Chwalisz, Bart K, Banik, Rudrani, Bazin, Fabienne, Roux, Michel, Cox, Eric D, Taiel, Magali, Sahel, José-Alain, Giulia, Amore, Shweta, Anand, Rudrani, Banik, Piero, Barboni, Valérie, Biousse, Hayley, Boston, Asma, Burale, Michele, Carbonelli, Valerio, Carelli, Celia, Chen, Hui-Chen, Cheng, Steve, Cho, Manuela, Contin, Pietro, D’Agati, DeBusk, Adam A, Julie, De Zaeytijd, Jannah, Dobbs, Lindreth, DuBois, Simona, Esposti, Alcides, Fernandes Filho, Elizabeth, Fortin, Sapna, Gangaputra, Deborah, Gibbs, François, Girmens Jean, Rabih, Hage, Haller, Julia A, Gad, Heilweil, George Baker, Hubbard III, Jeong-Min, Hwang, Laia, Jaumendreu Urquijo, Neringa, Jurkute, Rustum, Karanjia, Wahiba, Khemliche, La Chiara, Morgia, Maria, Massini, Marc, Mathias, Memon, Muhammad A, Susan, Mohamed, Muñoz Negrete, Francisco J, Ghazala, O’Keefe, Shriji, Patel, Paula, Pecen, Peragallo, Jason H, Lise, Plaine, Mary, Preston, Gema, Rebolleda Fernández, Martina, Romagnoli, José-Alain, Sahel, Melissa, SantaMaria, Chuanbin, Sun, Katy, Tai, Heather, Tollis, Irena, Tsui, Tucker, William R, Catherine, Vignal-Clermont, An-Guor, Wang, Saige, Wilkins, Patrick, Yu-Wai-Man

المصدر: Brain. 146(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Clinical Research, Genetics, Neurosciences, Clinical Trials and Supportive Activities, Eye Disease and Disorders of Vision, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Eye, Humans, DNA, Mitochondrial, Genetic Therapy, Inflammation, Mutation, Optic Atrophy, Hereditary, Leber, LHON REFLECT Study Group, NADH dehydrogenase 4, leber hereditary optic neuropathy, lenadogene nolparvovec, mitochondrial DNA, recombinant adeno-associated virus vector 2, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences, Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7m28c7n9Test

المؤلفون: Carelli, Valerio, Newman, Nancy, Yu-Wai-Man, Patrick, Biousse, Valerie, Moster, Mark, Subramanian, Prem, Vignal-Clermont, Catherine, Wang, An-Guor, Donahue, Sean, Leroy, Bart, Sergott, Robert, Klopstock, Thomas, Sadun, Alfredo, Rebolleda Fernández, Gema, Chwalisz, Bart, Banik, Rudrani, Girmens, Jean, La Morgia, Chiara, DeBusk, Adam, Jurkute, Neringa, Priglinger, Claudia, Karanjia, Rustum, Josse, Constant, Salzmann, Julie, Montestruc, François, Roux, Michel, Taiel, Magali, Sahel, José-Alain

المصدر: Ophthalmology and Therapy. 12(1)

مصطلحات موضوعية: Gene therapy, LHON, Leber hereditary optic neuropathy, MT-ND4, Natural history, Visual acuity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9mt7w3g2Test

المؤلفون: Hensman, Jonathan, Hahn, Leo C., van Schooneveld, Mary J., Diederen, Roselie M.H., ten Brink, Jacoline B., Florijn, Ralph J., Bergen, Arthur A., Strubbe, Ine, Heutinck, Pam, van Genderen, Maria M., van den Born, L. Ingeborgh, Thiadens, Alberta A., de Zaeytijd, Julie, Leroy, Bart P., Hoyng, Carel B., Boon, Camiel J.F.

المصدر: Hensman , J , Hahn , L C , van Schooneveld , M J , Diederen , R M H , ten Brink , J B , Florijn , R J , Bergen , A A , Strubbe , I , Heutinck , P , van Genderen , M M , van den Born , L I , Thiadens , A A , de Zaeytijd , J , Leroy , B P , Hoyng , C B & Boon , C J F 2024 , ' Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/241e27d6-36c5-476e-a8b2-7f6b0589d5f8Test

الإتاحة: https://doi.org/10.1016/j.oret.2023.12.003Test
https://pure.eur.nl/en/publications/241e27d6-36c5-476e-a8b2-7f6b0589d5f8Test
https://pure.eur.nl/ws/files/136219548/1-s2.0-S2468653023006474-main.pdfTest
http://www.scopus.com/inward/record.url?scp=85183434127&partnerID=8YFLogxKTest

المؤلفون: Dueñas Rey, Alfredo, del Pozo Valero, Marta, Bouckaert, Manon, Wood, Katherine A, Van den Broeck, Filip, Daich Varela, Malena, Thomas, Huw B, Van Heetvelde, Mattias, De Bruyne, Marieke, Van de Sompele, Stijn, Bauwens, Miriam, Lenaerts, Hanne, Mahieu, Quinten, Josifova, Dragana, Rivolta, Carlo, O’Keefe, Raymond T, Ellingford, Jamie, Webster, Andrew R, Arno, Gavin, Ayuso, Carmen, De Zaeytijd, Julie, Leroy, Bart P, De Baere, Elfride, Coppieters, Frauke

المساهمون: Bijzonder Onderzoeksfonds UGent, H2020 Marie Skłodowska-Curie Actions, Universitair Ziekenhuis Gent, Foundation Fighting Blindness, European Joint Programme on Rare Disease, Fundación Alfonso Martín Escudero, Instituto de Salud Carlos III, University Chair UAM-IIS-FJD of Genomic Medicine, Fight for Sight UK, National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology

المصدر: Genome Medicine ; volume 16, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-023-01277-1Test

المؤلفون: Pechhacker, Monika K Grudzinska, Jacobson, Samuel G, Drack, Arlene V, Di Scipio, Matteo, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L, Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L, Aleman, Tomas S, Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart P, Maynes, Jason T, Munier, Francis L, Tavares, Erika, Saleh, Eman, Vincent, Ajoy, Heon, Elise

المصدر: Investigative Ophthalmology & Visual Science. 62(15)

مصطلحات موضوعية: Rare Diseases, Neurosciences, Eye Disease and Disorders of Vision, Clinical Research, Eye, Adolescent, Adult, Bardet-Biedl Syndrome, Chaperonins, Child, Child, Preschool, Electroretinography, Female, Humans, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Missense, Optical Imaging, Refraction, Ocular, Retina, Retinal Dystrophies, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity, Visual Field Tests, Visual Fields, blindness, Bardet Biedl syndrome, retinal degeneration, genetics, natural history, end points, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4f15j5spTest

المؤلفون: Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G.M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A.H.J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J.M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P.M., Roosing, Susanne

المصدر: Frontiers in Cell and Developmental Biology. 11

مصطلحات موضوعية: cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/1e2c7301-6eec-43e1-8240-1d6d7c81d55cTest
http://dx.doi.org/10.3389/fcell.2023.1112270Test

المؤلفون: Leroy, Bart P, Birch, David G, Duncan, Jacque L, Lam, Byron L, Koenekoop, Robert K, Porto, Fernanda BO, Russell, Stephen R, Girach, Aniz

المصدر: Retina. 41(5)

مصطلحات موضوعية: Stem Cell Research, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell, Neurosciences, Rare Diseases, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Clinical Research, Eye Disease and Disorders of Vision, Clinical Trials and Supportive Activities, Eye, Antigens, Neoplasm, Blindness, Cell Cycle Proteins, Cytoskeletal Proteins, DNA, DNA Mutational Analysis, Disease Management, Health Services Needs and Demand, Humans, Leber Congenital Amaurosis, c2991+1655A>G, CEP290, childhood blindness, ciliopathy, cone-rod dystrophy, inherited retinal disease, LCA10, Leber congenital amaurosis, Opthalmology and Optometry, Ophthalmology & Optometry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/99z9w66hTest

المؤلفون: Thompson, Debra A, Iannaccone, Alessandro, Ali, Robin R, Arshavsky, Vadim Y, Audo, Isabelle, Bainbridge, James WB, Besirli, Cagri G, Birch, David G, Branham, Kari E, Cideciyan, Artur V, Daiger, Steven P, Dalkara, Deniz, Duncan, Jacque L, Fahim, Abigail T, Flannery, John G, Gattegna, Roberto, Heckenlively, John R, Heon, Elise, Jayasundera, K Thiran, Khan, Naheed W, Klassen, Henry, Leroy, Bart P, Molday, Robert S, Musch, David C, Pennesi, Mark E, Petersen-Jones, Simon M, Pierce, Eric A, Rao, Rajesh C, Reh, Thomas A, Sahel, Jose A, Sharon, Dror, Sieving, Paul A, Strettoi, Enrica, Yang, Paul, Zacks, David N

المصدر: Translational Vision Science & Technology. 9(7)

مصطلحات موضوعية: Eye Disease and Disorders of Vision, Clinical Research, Neurosciences, Orphan Drug, Rare Diseases, Clinical Trials and Supportive Activities, Networking and Information Technology R&D (NITRD), 8.4 Research design and methodologies (health services), Health and social care services research, Generic health relevance, Good Health and Well Being, Humans, Precision Medicine, Retina, Retinal Diseases, inherited retinal diseases, clinical trials, natural history studies, outcome measures, counseling patients, Monaciano Consortium, Biomedical Engineering, Opthalmology and Optometry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6dv9w4tmTest

المؤلفون: Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R, Webster, Andrew R, Leroy, Bart P, Moore, Anthony T, De Baere, Elfride

المصدر: Scientific reports. 10(1)

مصطلحات موضوعية: Humans, Microphthalmos, Membrane Proteins, Cohort Studies, Family, Heterozygote, Mutation, Alleles, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Female, Male, DNA Copy Number Variations, Serine Proteases, Whole Genome Sequencing

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9rm8d2d9Test

المؤلفون: Vignal-ClermoḤ, Catherine, Yu-Wai-Man, Patrick, Newman, Nancy J, Carelli, Valerio, Moster, Mark L, Biousse, Valerie, Subramanian, Prem S, Wang, An-Guor, Donahue, Sean P, Leroy, Bart P, Sadun, Alfredo A, Klopstock, Thomas, Sergott, Robert C, Fernández, Gema Rebolleda, Chwalisz, Bart K, Banik, Rudrani, Taiel, Magali, Roux, Michel, Sahel, José-Alain

المساهمون: Vignal-ClermoḤ, Catherine, Yu-Wai-Man, Patrick, Newman, Nancy J, Carelli, Valerio, Moster, Mark L, Biousse, Valerie, Subramanian, Prem S, Wang, An-Guor, Donahue, Sean P, Leroy, Bart P, Sadun, Alfredo A, Klopstock, Thoma, Sergott, Robert C, Fernández, Gema Rebolleda, Chwalisz, Bart K, Banik, Rudrani, Taiel, Magali, Roux, Michel, Sahel, José-Alain

مصطلحات موضوعية: Leber hereditary optic neuropathy, intravitreal gene therapy, safety

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36496192; info:eu-repo/semantics/altIdentifier/wos/WOS:000957059500001; volume:249; firstpage:108; lastpage:125; numberofpages:18; journal:AMERICAN JOURNAL OF OPHTHALMOLOGY; https://hdl.handle.net/11585/916799Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148357955; https://www.sciencedirect.com/science/article/pii/S0002939422004640?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.ajo.2022.11.026Test
https://hdl.handle.net/11585/916799Test
https://www.sciencedirect.com/science/article/pii/S0002939422004640?via=ihubTest