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: Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F. Chinnery, Catarina Olimpio, Rita Horvath

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: Leber hereditary optic neuropathy (LHON), mitochondrial LHON (mtLHON), autosomal recessive LHON (arLHON), DNA-J heat shock protein family (Hsp40) member C30 (DNAJC30), c.152A>G (p.Tyr51Cys), recessive optic neuropathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1292320/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/48c871d2ccba431b9451d553f5fb705cTest

المؤلفون: Michael James Gilhooley, Naz Raoof, Patrick Yu-Wai-Man, Mariya Moosajee

المصدر: Genes, Vol 15, Iss 2, p 188 (2024)

مصطلحات موضوعية: optic neuropathy, paediatric, Leber hereditary optic neuropathy, dominant optic atrophy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/2/188Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/5861452d3a3c491caf17fc6e6c61f723Test

المؤلفون: Nancy J. Newman, Matthew Schniederjan, Pia R. Mendoza, David J. Calkins, Patrick Yu-Wai-Man, Valérie Biousse, Valerio Carelli, Magali Taiel, Francois Rugiero, Pramila Singh, Alexandra Rogue, José-Alain Sahel, Philippe Ancian

المصدر: BMC Neurology, Vol 22, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Case report, Viral vector transduction, Recombinant adeno-associated virus vector 2 serotype 2, ND4, qPCR assay, Lenadogene nolparvovec, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2377Test

الوصول الحر: https://doaj.org/article/923f8af8163d42f2bf38d764929e4ab8Test

المؤلفون: Benson S. Chen, Patrick Yu-Wai-Man

المصدر: Cold Spring Harbor perspectives in medicine. 12(6)

مصطلحات موضوعية: Retinal Ganglion Cells, Humans, Genetic Therapy, Optic Atrophy, Hereditary, Leber, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cdfada3e8ad7d1a6d549043d2d90fbTest
https://pubmed.ncbi.nlm.nih.gov/35863905Test

المؤلفون: David CS Wong, Joshua P Harvey, Neringa Jurkute, Sara M Thomasy, Mariya Moosajee, Patrick Yu-Wai-Man, Michael J Gilhooley

مصطلحات موضوعية: Neurosciences, Model organisms, Gene Expression, Genetics & Genomics, Developmental Biology, Human Biology & Physiology, Stem Cells, Moosajee - sec, 1103 Clinical Sciences, 1109 Neurosciences, 1113 Opthalmology and Optometry, Ophthalmology & Optometry, 3202 Clinical sciences, 3209 Neurosciences, 3212 Ophthalmology and optometry

العلاقة: https://figshare.com/articles/journal_contribution/OPA1_dominant_optic_atrophy_Pathogenesis_and_therapeutic_targets_/24615066Test

الإتاحة: https://doi.org/10.25418/crick.24615066.v1Test
https://figshare.com/articles/journal_contribution/OPA1_dominant_optic_atrophy_Pathogenesis_and_therapeutic_targets_/24615066Test

المؤلفون: Paul E. Sladen, Pedro R.L. Perdigão, Grace Salsbury, Tatiana Novoselova, Jacqueline van der Spuy, J. Paul Chapple, Patrick Yu-Wai-Man, Michael E. Cheetham

المصدر: Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 432-443 (2021)

مصطلحات موضوعية: mitochondria, gene editing, CRISPR, gene correction, iPSC, optic atrophy, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253121002092Test; https://doaj.org/toc/2162-2531Test

الوصول الحر: https://doaj.org/article/d52d4e05c1eb45a79497e28aa0a85bf6Test

المؤلفون: David J. Calkins, Patrick Yu-Wai-Man, Nancy J. Newman, Magali Taiel, Pramila Singh, Clémentine Chalmey, Alexandra Rogue, Valerio Carelli, Philippe Ancian, José A. Sahel

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 307-318 (2021)

مصطلحات موضوعية: viral vector, transduction, recombinant adeno-associated virus vector 2 serotype 2, ND4, qPCR assay, biodistribution, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050121001510Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/7d8456c524ac4b3a9e71cc8d5f2d63e9Test

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

المصدر: BMJ Open Ophthalmology, Vol 7, Iss 1 (2022)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://bmjophth.bmj.com/content/7/1/e001158.fullTest; https://doaj.org/toc/2397-3269Test

الوصول الحر: https://doaj.org/article/c3ae820deb6448238032cfa7c2f4a8d2Test

المؤلفون: Hugo T. Chow-Wing-Bom, Martina F. Callaghan, Junqing Wang, Shihui Wei, Frederic Dick, Patrick Yu-Wai-Man, Tessa M. Dekker

المصدر: NeuroImage: Clinical, Vol 36, Iss , Pp 103240- (2022)

مصطلحات موضوعية: Optic neuropathies, LHON, MRI, DTI, Optic pathways, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2213158222003059Test; https://doaj.org/toc/2213-1582Test

الوصول الحر: https://doaj.org/article/3c24cd40fc6a40228855ca9794757efdTest