المؤلفون: Solaguren-Beascoa, M, Bujakowska, KM, Mejecase, C, Emmenegger, L, Orhan, E, Neuille, M, Mohand-Said, S, Condroyer, C, Lancelot, M-E, Michiels, C, Demontant, V, Antonio, A, Letexier, M, Saraiva, J-P, Lonjou, C, Carpentier, W, Leveillard, T, Pierce, EA, Dollfus, H, Sahel, J-A, Bhattacharya, SS, Audo, I, Zeitz, C

المصدر: Clinical Genetics , 99 (2) pp. 298-302. (2021)

مصطلحات موضوعية: KIAA2026, non-syndromic rod-cone dystrophy, retinitis pigmentosa, WDR34, whole-exome sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10138455/1/nihms-1682895.pdf; https://discovery.ucl.ac.uk/id/eprint/10138455/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10138455/1/nihms-1682895.pdf
https://discovery.ucl.ac.uk/id/eprint/10138455/

المؤلفون: Sangermano, R, Deitch, I, Peter, VG, Ba-Abbad, R, Place, EM, Zampaglione, E, Wagner, NE, Fulton, AB, Coutinho-Santos, L, Rosin, B, Dunet, V, AlTalbishi, A, Banin, E, Sousa, AB, Neves, M, Larson, A, Quinodoz, M, Michaelides, M, Ben-Yosef, T, Pierce, EA, Rivolta, C, Webster, AR, Arno, G, Sharon, D, Huckfeldt, RM, Bujakowska, KM

المصدر: npj Genomic Medicine , 6 , Article 53. (2021)

مصطلحات موضوعية: Disease genetics, Hereditary eye disease

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10131865/1/s41525-021-00214-8.pdf; https://discovery.ucl.ac.uk/id/eprint/10131865/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10131865/1/s41525-021-00214-8.pdf
https://discovery.ucl.ac.uk/id/eprint/10131865/

المؤلفون: Thompson, DA, Iannaccone, A, Ali, RR, Arshavsky, VY, Audo, I, Bainbridge, JWB, Besirli, CG, Birch, DG, Branham, KE, Cideciyan, AV, Daiger, SP, Dalkara, D, Duncan, JL, Fahim, AT, Flannery, JG, Gattegna, R, Heckenlively, JR, Heon, E, Jayasundera, KT, Khan, NW, Klassen, H, Leroy, BP, Molday, RS, Musch, DC, Pennesi, ME, Petersen-Jones, SM, Pierce, EA, Rao, RC, Reh, TA, Sahel, JA, Sharon, D, Sieving, PA, Strettoi, E, Yang, P, Zacks, DN

المصدر: Translational Vision Science and Technology , 9 (7) , Article 2. (2020)

مصطلحات موضوعية: inherited retinal diseases, clinical trials, natural history studies, outcome measures, counseling patients

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10101671/1/i2164-2591-457-1-2146.pdf; https://discovery.ucl.ac.uk/id/eprint/10101671/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10101671/1/i2164-2591-457-1-2146.pdf
https://discovery.ucl.ac.uk/id/eprint/10101671/

المؤلفون: Brydon EM, Bronstein R, Buskin A, Lako M, Pierce EA, Fernandez-Godino R

المصدر: Molecular Therapy - Methods and Clinical Development, 13 December 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/262130; https://eprints.ncl.ac.uk/fulltext.aspx?url=262130/3D5DD0B6-C520-4B80-A31F-509CE674F3E4.pdf&pub_id=262130

الاتاحة: https://eprints.ncl.ac.uk/262130

المؤلفون: Ba-Abbad, R, Leys, M, Wang, X, Chakarova, C, Waseem, N, Carss, KJ, Raymond, FL, Bujakowska, KM, Pierce, EA, Mahroo, OA, Mohamed, MD, Holder, GE, Hummel, M, Arno, G, Webster, AR

المصدر: Investigative Ophthalmology & Visual Science , 59 (12) pp. 4812-4820. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10061077/1/i1552-5783-59-12-4812.pdf; https://discovery.ucl.ac.uk/id/eprint/10061077/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10061077/1/i1552-5783-59-12-4812.pdf
https://discovery.ucl.ac.uk/id/eprint/10061077/

المؤلفون: Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Sun J, Acerra C, Wright JF, Wellman J, High KA, Bennett J, Simonelli F., SURACE, Enrico Maria, AURICCHIO, ALBERTO

المساهمون: Testa, F, Maguire, Am, Rossi, S, Pierce, Ea, Melillo, P, Marshall, K, Banfi, S, Surace, Enrico Maria, Sun, J, Acerra, C, Wright, Jf, Wellman, J, High, Ka, Auricchio, Alberto, Bennett, J, Simonelli, F.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000320650700036; volume:120; journal:OPHTHALMOLOGY; http://hdl.handle.net/11588/577025; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84878581647

الاتاحة: http://hdl.handle.net/11588/577025
https://doi.org/10.1016/j.ophtha.2012.11.048

المؤلفون: Bennett J, Ashtari M, Wellman J, Marshall KA, Cyckowski LL, Chung DC, McCague S, Pierce EA, Chen Y, Bennicelli JL, Zhu X, Ying GS, Sun J, Wright JF, Simonelli F, Shindler KS, Mingozzi F, High KA, Maguire AM, AURICCHIO, ALBERTO

المساهمون: Bennett, J, Ashtari, M, Wellman, J, Marshall, Ka, Cyckowski, Ll, Chung, Dc, Mccague, S, Pierce, Ea, Chen, Y, Bennicelli, Jl, Zhu, X, Ying, G, Sun, J, Wright, Jf, Auricchio, Alberto, Simonelli, F, Shindler, K, Mingozzi, F, High, Ka, Maguire, Am

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000300223600003; volume:4; journal:SCIENCE TRANSLATIONAL MEDICINE; http://hdl.handle.net/11588/577019; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007302654

الاتاحة: http://hdl.handle.net/11588/577019
https://doi.org/10.1126/scitranslmed.3002865

المؤلفون: Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, Rossi S, Marshall K, Banfi S, Sun J, Redmond TM, Zhu X, Shindler KS, Ying GS, Ziviello C, Acerra C, Wright JF, McDonnell JW, High KA, Bennett J, AURICCHIO, ALBERTO, SURACE, Enrico Maria

المساهمون: Simonelli, F, Maguire, Am, Testa, F, Pierce, Ea, Mingozzi, F, Bennicelli, Jl, Rossi, S, Marshall, K, Banfi, S, Surace, Enrico Maria, Sun, J, Redmond, Tm, Zhu, X, Shindler, K, Ying, G, Ziviello, C, Acerra, C, Wright, Jf, Mcdonnell, Jw, High, Ka, Bennett, J, Auricchio, Alberto

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000275454500025; volume:18; issue:3; firstpage:643; lastpage:650; journal:MOLECULAR THERAPY; http://hdl.handle.net/11588/611258; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77649242176

الاتاحة: http://hdl.handle.net/11588/611258
https://doi.org/10.1038/mt.2009.277

المؤلفون: Bennett J, Ashtari M, Wellman J, Marshall KA, Cyckowski LL, Chung DC, McCague S, Pierce EA, Chen Y, Bennicelli JL, Zhu X, Ying GS, Sun J, Wright JF, Auricchio A, Simonelli F, Shindler KS, Mingozzi F, High KA, Maguire AM.

المساهمون: Bennett, J, Ashtari, M, Wellman, J, Marshall, Ka, Cyckowski, Ll, Chung, Dc, Mccague, S, Pierce, Ea, Chen, Y, Bennicelli, Jl, Zhu, X, Ying, G, Sun, J, Wright, Jf, Auricchio, A, Simonelli, F, Shindler, K, Mingozzi, F, High, Ka, Maguire, Am.

مصطلحات موضوعية: viruses

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3977::1e6fbbd78f6bb8b0f16e15c0408cc54a
http://hdl.handle.net/11591/189130

المؤلفون: Maguire AM, High KA, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J., AURICCHIO, ALBERTO, SURACE, Enrico Maria

المساهمون: Maguire, Am, High, Ka, Auricchio, Alberto, Wright, Jf, Pierce, Ea, Testa, F, Mingozzi, F, Bennicelli, Jl, Ying, G, Rossi, S, Fulton, A, Marshall, Ka, Banfi, S, Chung, Dc, Morgan, Ji, Hauck, B, Zelenaia, O, Zhu, X, Raffini, L, Coppieters, F, De Baere, E, Shindler, K, Volpe, Nj, Surace, Enrico Maria, Acerra, C, Lyubarsky, A, Redmond, Tm, Stone, E, Sun, J, Mcdonnell, Jw, Leroy, Bp, Simonelli, F, Bennett, J.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000271674600033; volume:374; journal:THE LANCET; http://hdl.handle.net/11588/611292; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70350620424

الاتاحة: http://hdl.handle.net/11588/611292
https://doi.org/10.1016/S0140-6736(09)61836-5

المؤلفون: Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, AURICCHIO, ALBERTO, High KA, Bennett J., SURACE, Enrico Maria

المساهمون: Maguire, Am, Simonelli, F, Pierce, Ea, Pugh EN, Jr, Mingozzi, F, Bennicelli, J, Banfi, S, Marshall, Ka, Testa, F, Surace, Enrico Maria, Rossi, S, Lyubarsky, A, Arruda, Vr, Konkle, B, Stone, E, Sun, J, Jacobs, J, Dell'Osso, L, Hertle, R, Ma, Jx, Redmond, Tm, Zhu, X, Hauck, B, Zelenaia, O, Shindler, K, Maguire, Mg, Wright, Jf, Volpe, Nj, Mcdonnell, Jw, Auricchio, Alberto, High, Ka, Bennett, J.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000256023600006; volume:358; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11588/611296; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-44249085878

الاتاحة: http://hdl.handle.net/11588/611296
https://doi.org/10.1056/NEJMoa0802315

المؤلفون: Burkhead WZ Jr., Skedros JG, O'Rourke PJ, Pierce EA, Pitts TC, Burkhead, Wayne Z Jr, Skedros, John G, O'Rourke, Peter J, Pierce, William A, Pitts, Todd C

المصدر: Clinical Orthopaedics & Related Research®; Aug2007, Vol. 461 Issue 1, p106-113, 8p

المؤلفون: Arkady Lyubarsky, Jean Bennett, Xiaosong Zhu, Maureen G. Maguire, Eric A. Pierce, Enrico Maria Surace, Kathleen A. Marshall, Barbara A. Konkle, Sandro Banfi, L. F. Dell'Osso, Jeannette L. Bennicelli, Jonathan B. Jacobs, Edwin M. Stone, J. Fraser Wright, Richard W. Hertle, Kenneth S. Shindler, Edward N. Pugh, Nicholas J. Volpe, Jennifer Wellman McDonnell, Katherine A. High, Junwei Sun, Valder R. Arruda, Francesco Testa, Albert M. Maguire, Jian Xing Ma, Alberto Auricchio, Federico Mingozzi, Bernd Hauck, Olga Zelenaia, T. Michael Redmond, Francesca Simonelli, Settimio Rossi

المساهمون: Maguire, Am, Simonelli, Francesca, Pierce, Ea, Pugh EN, Jr, Mingozzi, F, Bennicelli, J, Banfi, Sandro, Marshall, Ka, Testa, Francesco, Surace, Em, Rossi, Settimio, Lyubarsky, A, Arruda, Vr, Konkle, B, Stone, E, Sun, J, Jacobs, J, Dell'Osso, L, Hertle, R, Ma, Jx, Redmond, Tm, Zhu, X, Hauck, B, Zelenaia, O, Shindler, K, Maguire, Mg, Wright, Jf, Volpe, Nj, Mcdonnell, Jw, Auricchio, A, High, Ka, Bennett, J., Simonelli, F, Banfi, S, Testa, F, Surace, Enrico Maria, Rossi, S, Auricchio, Alberto

المصدر: New England Journal of Medicine. 358:2240-2248

مصطلحات موضوعية: Retinal degeneration, medicine.medical_specialty, Visual acuity, Gene therapy of the human retina, genetic structures, business.industry, Genetic enhancement, Genetic transfer, General Medicine, medicine.disease, Article, eye diseases, Choroideremia, Surgery, RPE65, Ophthalmology, medicine, Leber's congenital amaurosis, sense organs, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bedee9d5016d2cd789444b7de1fd948
https://doi.org/10.1056/nejmoa0802315

المؤلفون: Jeannette L. Bennicelli, Carmela Acerra, Sandro Banfi, Settimio Rossi, Carmela Ziviello, Kenneth S. Shindler, T. Michael Redmond, Federico Mingozzi, Kathleen A. Marshall, Francesca Simonelli, Xiaosong Zhu, Enrico Maria Surace, Eric A. Pierce, Katherine A. High, Junwei Sun, Albert M. Maguire, Jennifer Wellman McDonnell, Francesco Testa, J. Fraser Wright, Alberto Auricchio, Gui-Shuang Ying, Jean Bennett

المساهمون: Simonelli, F, Maguire, Am, Testa, F, Pierce, Ea, Mingozzi, F, Bennicelli, Jl, Rossi, S, Marshall, K, Banfi, S, Surace, Enrico Maria, Sun, J, Redmond, Tm, Zhu, X, Shindler, K, Ying, G, Ziviello, C, Acerra, C, Wright, Jf, Mcdonnell, Jw, High, Ka, Bennett, J, Auricchio, Alberto, Simonelli, Francesca, Testa, Francesco, Rossi, Settimio, Banfi, Sandro, Surace, Em, Shindlerks, Auricchio, A.

المصدر: Molecular Therapy
Molecular Therapy; Vol 18

مصطلحات موضوعية: Time Factors, Genetic enhancement, viruses, Leber Congenital Amaurosis, Disease, chemistry.chemical_compound, 0302 clinical medicine, Drug Discovery, Medicine, Vector (molecular biology), Transgenes, Genetics, 0303 health sciences, Dependovirus, 3. Good health, medicine.anatomical_structure, Treatment Outcome, Editorial, Disease Progression, Leber's congenital amaurosis, Molecular Medicine, Adult, cis-trans-Isomerases, Genetic Vectors, Retina, 03 medical and health sciences, Humans, Clinical Trials, Eye Proteins, Molecular Biology, Vision, Ocular, 030304 developmental biology, Pharmacology, Models, Genetic, business.industry, Retinal, Original Articles, Genetic Therapy, medicine.disease, eye diseases, RPE65, chemistry, Cis-trans-Isomerases, Immunology, 030221 ophthalmology & optometry, sense organs, business, Carrier Proteins, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::298c97d708abc418927ba2d6165559ed
https://pubmed.ncbi.nlm.nih.gov/20195259

المؤلفون: Jean Bennett, Jessica I. W. Morgan, Carmela Acerra, Kathleen A. Marshall, Katherine A. High, Daniel C. Chung, Xiaosong Zhu, Alberto Auricchio, Enrico Maria Surace, Bernd Hauck, Frauke Coppieters, Gui-Shuang Ying, Albert M. Maguire, Kenneth S. Shindler, Sandro Banfi, Jenni Fer Uvellman Mcdonnell, Nicholas J. Volpe, Arkady Lyubarsky, Ann Fulton, Leslie Raffini, Eric A. Pierce, Elfride De Baere, Olga Zelenaia, Jeannette L. Bennicelli, J. Fraser Wright, Francesco Testa, T. Michael Redmond, Junwei Sun, Edwin M. Stone, Federico Mingozzi, Francesca Simonelli, Bart P. Leroy, Settimio Rossi

المساهمون: Maguire, Am, High, Ka, Auricchio, A, Wright, Jf, Pierce, Ea, Testa, Francesco, Mingozzi, F, Bennicelli, Jl, Ying, G, Rossi, Settimio, Fulton, A, Marshall, Ka, Banfi, Sandro, Chung, Dc, Morgan, Ji, Hauck, B, Zelenaia, O, Zhu, X, Raffini, L, Coppieters, F, De Baere, E, Shindler, K, Volpe, Nj, Surace, Em, Acerra, C, Lyubarsky, A, Redmond, Tm, Stone, E, Sun, J, Mcdonnell, Jw, Leroy, Bp, Simonelli, Francesca, Bennett, J., Auricchio, Alberto, Testa, F, Rossi, S, Banfi, S, Surace, Enrico Maria, Simonelli, F

المصدر: Lancet (London, England). 374(9701)

مصطلحات موضوعية: Retinal degeneration, Male, Visual acuity, genetic structures, Visual Acuity, Blindness, chemistry.chemical_compound, Mice, Medicine, Child, media_common, Age Factors, General Medicine, Dependovirus, gene therapy, Leber’s congenital amaurosi, Treatment Outcome, Disease Progression, Leber's congenital amaurosis, Female, medicine.symptom, Safety, Retinopathy, Adult, cis-trans-Isomerases, medicine.medical_specialty, Adolescent, Genetic Vectors, Dark Adaptation, Optic Atrophy, Hereditary, Leber, Article, Injections, Young Adult, Nystagmus, Physiologic, Ophthalmology, Electroretinography, media_common.cataloged_instance, Animals, Humans, European union, Eye Proteins, Dose-Response Relationship, Drug, business.industry, Infant, Newborn, Retinal, Genetic Therapy, medicine.disease, eye diseases, Disease Models, Animal, RPE65 gene, RPE65, chemistry, Cis-trans-Isomerases, Mutation, business, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e3ef7f273825996ee1f6bcdf200da5
https://pubmed.ncbi.nlm.nih.gov/19854500