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by Visigalli, I and Cecere, F and Carriglio, N and Hernandez, R J and Hernandez, R J and De Simone, M and Vezzoli, M and Monti, L and Zino, E and Alfonso, E and Sanvito, F and Mauro, V and Norata, R and Acquati, S and Acquati, S and Redaelli, D and Redaelli, D and Dionisio, F and De Mattia, F and Scaramuzza, S and Rossi, C and Giannelli, S and Giannelli, S and Salerio, F and Sartirana, C and Brigida, I and Magni, S and Miglietta, S and Monteverde, S and Monti, I and Gregori, S and Ferrari, G and Aiuti, A and Castagnaro, L and Zancan, S and Cristofori, P and Naldini, L and Bonini, C and Waselle, L and Tissot, L and Sitjve, S and Büning, H and Ayuso, E and Déglon, N and Bueren, J and Trono, D and Nobrega, C and Mendonça, L and Marcelo, A and Lamazière, A and Tomé, S and Tomé, S and Déspres, G and Matos, C and Mechmet, F and Langui, D and den Dunnen, W and Pereira de Almeida, L and Cartier, N and Mitchell, J and Nemesh, J and Ghosh, S and Mello, C and McCaroll, S and Di Pasquale, G and Chandler, R J and Choi, E Y and Hubbard, B and Afione, S and Khalaj, M and Zheng, C and Grewe, B and Kaler, S G and Venditti, C P and Grimm, D and Grimm, D and Buj Bello, A and Nyns, E CA and Bingen, B O and Bart, C I and Kip, A and Poelma, R H and Volkers, L and Plomp, J J and Jangsangthong, W and Engels, M C and Schalij, M J and Zhang, G Q and Pijnappels, D A and Hildebrant, E and Penzes, J and Agbandje-McKenna, M and Gifford, R and Xiao, X and Akcakaya, P and Bobbin, M L and Guo, J A and Malagon-Lopez, J and Clement, K and Garcia, S P and ...
Human Gene Therapy, ISSN 1043-0342, 12/2018, Volume 29, Issue 12, pp. A1 - A169
Previously, results at 2 years after subretinal injection of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in eight adults and... 
Abstracts | MEDICINE, RESEARCH & EXPERIMENTAL | retinal degeneration | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | AAV | GENETICS & HEREDITY | gene therapy | Leber congenital amaurosis | RPE65
Journal Article
Cell Death and Disease, ISSN 2041-4889, 12/2011, Volume 2, Issue 12, pp. e240 - e240
Journal Article
by Bailey, Jessica N Cooke and Loomis, Stephanie J and Kang, Jae H and Allingham, R. Rand and Gharahkhani, Puya and Khor, Chiea Chuen and Burdon, Kathryn P and Aschard, Hugues and Chasman, Daniel I and Igo, Robert P and Hysi, Pirro G and Glastonbury, Craig A and Ashley-Koch, Allison and Brilliant, Murray and Brown, Andrew A and Budenz, Donald L and Buil, Alfonso and Cheng, Ching-Yu and Choi, Hyon and Christen, William G and Curhan, Gary and De Vivo, Immaculata and Fingert, John H and Foster, Paul J and Fuchs, Charles and Gaasterland, Douglas and Gaasterland, Terry and Hewitt, Alex W and Hu, Frank and Hunter, David J and Khawaja, Anthony P and Lee, Richard K and Li, Zheng and Lichter, Paul R and Mackey, David A and McGuffin, Peter and Mitchell, Paul and Moroi, Sayoko E and Perera, Shamira A and Pepper, Keating W and Qi, Qibin and Realini, Tony and Richards, Julia E and Ridker, Paul M and Rimm, Eric and Ritch, Robert and Ritchie, Marylyn and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Song, Yeunjoo E and Tamimi, Rulla M and Topouzis, Fotis and Viswanathan, Ananth C and Verma, Shefali Setia and Vollrath, Douglas and Wang, Jie Jin and Weisschuh, Nicole and Wissinger, Bernd and Wollstein, Gadi and Wong, Tien Y and Yaspan, Brian L and Zack, Donald J and Zhang, Kang and Weinreb, Robert N and Pericak-Vance, Margaret A and Small, Kerrin and Hammond, Christopher J and Aung, Tin and Liu, Yutao and Vithana, Eranga N and MacGregor, Stuart and Craig, Jamie E and Kraft, Peter and Howell, Gareth and Hauser, Michael A and Pasquale, Louis R and Haines, Jonathan L and Wiggs, Janey L and EPIC Norfolk Eye Study and ANZRAG Consortium
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 189 - 194
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
Organic and Biomolecular Chemistry, ISSN 1477-0520, 2016, Volume 14, Issue 35, pp. 8289 - 8300
The photochemical release of chemical reagents and bioactive molecules provides a useful tool for spatio-temporal control of biological processes. However,... 
MIGRATION | 2-PHOTON EXCITATION | ACTIVATION | HYDROGELS | BIOLOGY | CHEMISTRY | CHEMISTRY, ORGANIC | CYSTEINE | REACTION-MECHANISMS | CAGED COMPOUNDS | PROTEIN PRENYLATION
Journal Article
Organic & Biomolecular Chemistry, ISSN 1477-0520, 2016, Volume 14, Issue 35, pp. 8289 - 8300
The photochemical release of chemical reagents and bioactive molecules provides a useful tool for spatio-temporal control of biological processes. However,... 
Journal Article
PLoS One, ISSN 1932-6203, 2019, Volume 14, Issue 5, p. e0216705
Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2015, Volume 93, Issue S255, p. n/a
Summary Mutations in OPA1 are a common cause of dominant optic neuropathy (DOA). Recent studies suggest that ~20% of patients carrying OPA1 mutations have... 
Genetic research | Genetic aspects | Genotype & phenotype | Mutation
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 12/2009, Volume 50, Issue 12, pp. 5919 - 5926
Journal Article