المؤلفون: Carelli, Valerio, Newman, Nancy J., Sergott, Robert C., Priglinger, Claudia, Priglinger, Siegfried, Rudolph, Günther, von Livonius Bettina, Stephan Thurau, Muth, Daniel, Wolf, Armin, Al-Tamami, Jasmina, Pressler, Angelika, Schertler, Cosima, Hildebrandt, Martin, Klopstock, Thomas, Neuenhahn, Michael, Sadun, Alfredo A., Heilweil, Gad, Karanjia, Rustum, Tsui, Irena, Rebolleda Fernández, Gema, Urquijo, Laia Jaumendreu, Negrete Muñoz, Francisco J., Fortin, Elizabeth, Chwalisz, Bart K., Cestari, Dean, Banik, Rudrani, Tai, Katy, Castillo, Lorena, Garcia, Virginia, Bandello, Antonio Morilla Francesco, Barboni, Piero, Cascavilla, Maria Lucia, Battista, Marco, Calcagno, Francesca, Pina, Adelaide, Leruez, Stéphanie, Forooza, Rod, Girmens, Jean François, La Morgia, Chiara, DeBusk, Adam A., Jurkute, Neringa, Yu-Wai-Man, Patrick, Josse, Constant, Salzmann, Julie, Montestruc, François, Roux, Michel, Taiel, Magali, Sahel, José-Alain, Biousse, Valerie, Carbonelli, Michele, Di Vito, Lidia, Amore, Giulia, Contin, Manuela, Mohamed, Susan, Silvestri, Sara, D’Agati, Pietro, Newman, Nancy J, Biousse, Valérie, Moster, Mark L., Hubbard, George Baker, O’Keefe, Ghazala, Hendrick, Andrew M., Dattilo, Michael, Peragallo, Jason H., Hawy, Eman, DuBois, Lindreth, Gibbs, Deborah, Filho, Alcides Fernandes, Dobbs, Jannah, Subramanian, Prem S., Acheson, James, Boston, Hayley, Eleftheriadou, Maria, Esposti, Simona, Gemenetzi, Maria, Leitch-Devlin, Lauren, Tucker, William R., Burale, Asma, Vignal-Clermont, Catherine, Anand, Shweta, Memon, Muhammad A., Hussain, Rima, Jorany, Rasha, Sheel, Priyansha, SantaMaria, Melissa, Tollis, Heather, DeBusk, Adam A, Wang, An-Guor, Haller, Julia A., Massini, Maria, Pecen, Paula, Mathias, Marc, Preston, Mary, Cho, Steve, Sahel, José A., Donahue, Sean P., Hage, Rabih, Plaine, Lise, Khemliche, Wahiba, Cheng, Hui-Chen, Chen, Celia, Hwang, Jeong-Min, Sun, Chuanbin, Donahue, Sean, Patel, Shriji, Leroy, Bart P., Gangaputra, Sapna, Barrett, Megan, Ruark, Scott, Wilkins, Saige, De Zaeytijd, Julie, Van Cauwenbergh, Caroline, Verhauwen, Hilde, Catarino, Claudia B.

المصدر: Ophthalmology and therapy 12(1), 401 - 429 (2023). doi:10.1007/s40123-022-00611-x

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Gene therapy, LHON, Leber hereditary optic neuropathy, MT-ND4, Natural history, Visual acuity

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/2193-6528; info:eu-repo/semantics/altIdentifier/pmid/PMID:36449262; info:eu-repo/semantics/altIdentifier/issn/2193-8245; https://pub.dzne.de/record/259705Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00777%22Test

الإتاحة: https://doi.org/10.1007/s40123-022-00611-xTest
https://pub.dzne.de/record/259705Test
https://pub.dzne.de/search?p=id:%22DZNE-2023-00777%22Test

المؤلفون: Aung, Tin, Ozaki, Mineo, Lee, Mei, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert, Haripriya, Aravind, Williams, Susan, Astakhov, Yury, Orr, Andrew, Burdon, Kathryn, Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica, Cherecheanu, Alina, Kang, Jae, Nelson, Sarah, Hayashi, Ken, Manabe, Shin-Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki, Cha, Soon, Yamashiro, Kenji, Zenteno, Juan, Jonas, Jost, Kumar, Rajesh, Perera, Shamira, Chan, Anita, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak, de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan, Beni, Afsaneh, Yazdani, Shahin

المصدر: Nature Genetics. 49(7)

مصطلحات موضوعية: Aged, 80 and over, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian People, Calcium Channels, Cell Adhesion, Exfoliation Syndrome, Extracellular Matrix, Eye, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Male, Molecular Chaperones, Mutation, Missense, Point Mutation, RNA, Messenger, Spheroids, Cellular

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8v79f9zkTest

المؤلفون: Yu-Wai-Man, Patrick, Newman, Nancy, Carelli, Valerio, La Morgia, Chiara, Biousse, Valérie, Bandello, Francesco, Clermont, Catherine, Campillo, Lorena, Leruez, Stephanie, Moster, Mark, Cestari, Dean, Foroozan, Rod, Sadun, Alfredo, Karanjia, Rustum, Jurkute, Neringa, Blouin, Laure, Taiel, Magali, Sahel, José-Alain

المصدر: Eye, vol 36, iss 4

مصطلحات موضوعية: Adolescent, Adult, DNA, Mitochondrial, Europe, Humans, Mutation, Optic Atrophy, Hereditary, Leber, Retrospective Studies

وصف الملف: application/pdf

العلاقة: qt2q074800; https://escholarship.org/uc/item/2q074800Test

الإتاحة: https://escholarship.org/uc/item/2q074800Test

المؤلفون: Yu-Wai-Man, Patrick, Newman, Nancy, J, Carelli, Valerio, La Morgia, Chiara, Biousse, Valérie, Bandello, Francesco, M, Clermont, Catherine Vignal, Campillo, Lorena Castillo, Leruez, Stephanie, Moster, Mark, L, Cestari, Dean, M, Foroozan, Rod, Sadun, Alfredo, Karanjia, Rustum, Jurkute, Neringa, Blouin, Laure, Taiel, Magali, Sahel, José-Alain

المساهمون: University of Cambridge UK (CAM), Cambridge University Hospitals - NHS (CUH), Institute of Ophthalmology London, University College of London London (UCL), Emory University School of Medicine, Emory University Atlanta, GA, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University Milan, Italie (UniSR), Fondation Ophtalmologique Adolphe de Rothschild Paris, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Jefferson (Philadelphia University + Thomas Jefferson University), David Geffen School of Medicine Los Angeles, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC), University of Ottawa Ottawa, Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Institut Hospitalo-Universitaire FOReSIGHT (IHU FOReSIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU)-Sorbonne Université (SU)

المصدر: ISSN: 0950-222X.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33911213; hal-03213675; https://hal.sorbonne-universite.fr/hal-03213675Test; https://hal.sorbonne-universite.fr/hal-03213675/documentTest; https://hal.sorbonne-universite.fr/hal-03213675/file/s41433-021-01535-9.pdfTest; PUBMED: 33911213

الإتاحة: https://doi.org/10.1038/s41433-021-01535-9Test
https://hal.sorbonne-universite.fr/hal-03213675Test
https://hal.sorbonne-universite.fr/hal-03213675/documentTest
https://hal.sorbonne-universite.fr/hal-03213675/file/s41433-021-01535-9.pdfTest

المؤلفون: Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy

مصطلحات موضوعية: 31 Biological Sciences, 32 Biomedical and Clinical Sciences, 3105 Genetics, 3212 Ophthalmology and Optometry, Genetics, FOS Biological sciences, Brain Disorders, Neurosciences, FOS Clinical medicine, Clinical Research, Eye Disease and Disorders of Vision, Neurodegenerative, Rare Diseases, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological

الإتاحة: https://doi.org/10.17863/cam.54451Test
https://www.repository.cam.ac.uk/handle/1810/307361Test

المؤلفون: Le Roux, Gaël, Buisset, Adrien, Leruez, Stéphanie, Puskarczyk, Emmanuel, Gohier, Philippe, Descatha, Alexis

المساهمون: Centre Antipoison et Toxicovigilance du Grand Ouest (Angers) (CAPTV Angers), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service d'ophtalmologie Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), Centre de Recherche Clinique GH Saint-Joseph, Paris, Université Paris Descartes - Paris 5 (UPD5)-GH Saint-Joseph, Centre antipoison et de toxicovigilance (Nancy) (CAPTV Nancy), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: ISSN: 0928-6586 ; Ophthalmic Epidemiology ; https://univ-angers.hal.science/hal-02861508Test ; Ophthalmic Epidemiology, 2020, 27 (6), pp.468-476. ⟨10.1080/09286586.2020.1773871⟩.

مصطلحات موضوعية: chemical eye burns, poison center, occupational injuries, childhood accident, detergent, household products, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [STAT]Statistics [stat]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32500787; hal-02861508; https://univ-angers.hal.science/hal-02861508Test; https://univ-angers.hal.science/hal-02861508/documentTest; https://univ-angers.hal.science/hal-02861508/file/Le%20%20Roux-2020-Agents%20involved%20and%20severity%20of%20acute%20ocular%20exposure%20reported%20at%20a%20poison%20control%20cente.pdfTest; PUBMED: 32500787

الإتاحة: https://doi.org/10.1080/09286586.2020.1773871Test
https://univ-angers.hal.science/hal-02861508Test
https://univ-angers.hal.science/hal-02861508/documentTest
https://univ-angers.hal.science/hal-02861508/file/Le%20%20Roux-2020-Agents%20involved%20and%20severity%20of%20acute%20ocular%20exposure%20reported%20at%20a%20poison%20control%20cente.pdfTest

المؤلفون: Chao de La Barca, Juan, Manuel, Rondet-Courbis, Barnabé, Ferré, Marc, Muller, Jeanne, Buisset, Adrien, Leruez, Stéphanie, Plubeau, Guillaume, Macé, Thibaut, Moureauzeau, Laurie, Chupin, Stéphanie, Tessier, Lydie, Blanchet, Odile, Lenaers, Guy, Procaccio, Vincent, Mirebeau-Prunier, Delphine, Simard, Gilles, Gohier, Philippe, Milea, Dan, Reynier, Pascal

المساهمون: Département de Biochimie et Génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Ressources Biologiques CHU d'Angers (CRB CHU d'Angers BB-0033-00038), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Stress Oxydant et Pathologies Métaboliques (SOPAM), Rigshospitalet Copenhagen, Copenhagen University Hospital

المصدر: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.science/hal-02543202Test ; Journal of Clinical Medicine, 2020, 9 (3), pp.631. ⟨10.3390/jcm9030631⟩.

مصطلحات موضوعية: lipidomics, age-related macular degeneration, metabolomics, [SDV]Life Sciences [q-bio], [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, [SDV.BA]Life Sciences [q-bio]/Animal biology

العلاقة: hal-02543202; https://hal.science/hal-02543202Test; https://hal.science/hal-02543202/documentTest; https://hal.science/hal-02543202/file/jcm-09-00631-v2.pdfTest

الإتاحة: https://doi.org/10.3390/jcm9030631Test
https://hal.science/hal-02543202Test
https://hal.science/hal-02543202/documentTest
https://hal.science/hal-02543202/file/jcm-09-00631-v2.pdfTest

المؤلفون: Kouassi Nzoughet, Judith, Guehlouz, Khadidja, Leruez, Stéphanie, Gohier, Philippe, Bocca, Cinzia, Muller, Jeanne, Blanchet, Odile, Bonneau, Dominique, Simard, Gilles, Milea, Dan, Procaccio, Vincent, Lenaers, Guy, Chao de La Barca, Juan, Manuel, Reynier, Pascal

المساهمون: MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Rigshospitalet Copenhagen, Copenhagen University Hospital, Département de Biochimie et Génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)

المصدر: ISSN: 2218-1989 ; Metabolites ; https://hal.science/hal-02543212Test ; Metabolites, 2020, 10 (2), pp.49. ⟨10.3390/metabo10020049⟩.

مصطلحات موضوعية: primary open-angle glaucoma, optic neuropathy, data mining, metabolomics, mitochondrial dysfunction, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM]

العلاقة: hal-02543212; https://hal.science/hal-02543212Test; https://hal.science/hal-02543212/documentTest; https://hal.science/hal-02543212/file/metabolites-10-00049-v3.pdfTest

الإتاحة: https://doi.org/10.3390/metabo10020049Test
https://hal.science/hal-02543212Test
https://hal.science/hal-02543212/documentTest
https://hal.science/hal-02543212/file/metabolites-10-00049-v3.pdfTest

المؤلفون: Pipelart, V, Leroux, B, Leruez, Stéphanie, Henni, Samir, Navasiolava, Nastassia, Martin, Ludovic, Ebran, Jean-Marc

المساهمون: Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)

المصدر: ISSN: 0181-5512.

مصطلحات موضوعية: Atrophie épithélium pigmentaire, Bruch's membrane, Calcification, Drusen du nerf optique, Membrane de Bruch, Optic nerve head drusen, Pseudoxanthoma elasticum, Pseudoxanthome élastique, Retinal pigment epithelium atrophy, [SDV]Life Sciences [q-bio]

العلاقة: hal-02616933; https://univ-angers.hal.science/hal-02616933Test; https://univ-angers.hal.science/hal-02616933/documentTest; https://univ-angers.hal.science/hal-02616933/file/S0181551219300567.pdfTest; OKINA: ua19551; PII: S0181-5512(19)30056-7

الإتاحة: https://doi.org/10.1016/j.jfo.2018.08.007Test
https://univ-angers.hal.science/hal-02616933Test
https://univ-angers.hal.science/hal-02616933/documentTest
https://univ-angers.hal.science/hal-02616933/file/S0181551219300567.pdfTest

المؤلفون: Desquiret-Dumas, Valerie, Leman, Geraldine, Wetterwald, Celine, Chupin, Stephanie, Lebert, Anaïs, Khiati, Salim, Le Mao, Morgane, Geffroy, Guillaume, Kane, Mariame Selma, Chevrollier, Arnaud, Goudenege, David, Gadras, Cedric, Tessier, Lydie, Barth, Magalie, Leruez, Stephanie, Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Lenaers, Guy, Gueguen, Naig

المساهمون: MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0925-4439 ; Biochimica et Biophysica Acta - Molecular Basis of Disease ; https://hal.science/hal-02942827Test ; Biochimica et Biophysica Acta - Molecular Basis of Disease, 2019, 1865 (9), pp.2475-2489. ⟨10.1016/j.bbadis.2019.05.011⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-02942827; https://hal.science/hal-02942827Test; https://hal.science/hal-02942827/documentTest; https://hal.science/hal-02942827/file/S0925443919301711.pdfTest; PII: S0925-4439(19)30171-1

الإتاحة: https://doi.org/10.1016/j.bbadis.2019.05.011Test
https://hal.science/hal-02942827Test
https://hal.science/hal-02942827/documentTest
https://hal.science/hal-02942827/file/S0925443919301711.pdfTest