Zobrazeno 1 - 10
of 265
pro vyhledávání: '"Cremers, FPM"'
Autor:
Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Webster, AR, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF
Purpose To characterise the phenotype observed in a case series with macular disease and determine the cause. Design Multi-centre case series. Participants Six families (seven patients) with sporadic or multiplex macular disease with onset at 36-78 y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e648b1ddfe054c1b1657fdd744e16b62
Autor:
Gilbert, Edmund, O’Reilly, Seamus, Merrigan, Michael, McGettingan, Darren, Vitart, Veronique, Joshi, Peter K, Clark, David W, Campbell, Harry, Hayward, Caroline, Ring, Susan M, Golding, Jean, Goodfellow, Stephanie, Navarro, Pau, Kerr, Shona M, Amador, Carmen, Campbell, Archie, Haley, Chris S, Porteous, David J, Cavalleri, Gianpiero L, Wilson, James F, Byrne, RP, van Rheenen, W, Veldink, JH, McLaughlin, RL, Fitzgerald, Joan, Fahey, Laura, Whitton, Laura, Donohoe, Gary, Morris, Derek W, Smyth, LJ, Wooster, C, Kilner, J, Kee, F, Young, I, McGuinness, B, Maxwell, AP, McKay, GJ, McKnight, AJ, Maloney, DM, Chadderton, N, Millington-Ward, S, Farrar, GJ, Lambert, DM, Nguengang-Wakap, S, Olry, A, Rath, A, Murphy, D, Lynch, SA, Treacy, EP, Gunne, E, McGarvey, C, Hamilton, K, Savage, S, Rasheed, E, Rashid, A, Keogh, E, MacNamara, B, Collison, C, Brazil, N, Whatley, S, Crowley, VEF, Murphy, DN, Turner, J, Doyle, Samantha, Abidin, Zaza, Senanayake, Suranga, James, Stephanie, Yap, Mei, Hart, Caroline, Crushell, Ellen, Smyth, Shane, Green, Andrew, Treacy, Eileen, Lynch, Tim, Pastores, Gregory, Laffan, Aoife, O’Byrne, James, Palfi, A, Yesmambetov, A, Ormond, CM, Ryan, NM, Heron, EA, Gill, M, Corvin, AP, Kelly, CM, Doherty, MA, Hengeveld, JC, Campbell, C, Leu, C, Delanty, N, Lal, D, Cavalleri, GL, Angel, CZ, McNally, CJ, McKenna, DJ, Breslin, EM, Cassidy, LM, Martiniano, R, Mattiangeli, V, Silva, AM, Bradley, DG, Kearney, H, Balagura, G, Lewis-Smith, D, Ganesan, S, Gan, J, Galer, PD, Wang, Y, Tan, NCK, Lench, NJ, Steward, CA, Krause, R, Robinson, P, Helbig, I, Finnegan, LK, Kenna, P, Carty, M, Bowie, AG, Whelan, L, Dockery, A, Kenna, PF, Keegan, D, Silvestri, G, Khan, M, Cornelis, SS, Dhaenens, CM, Humphries, P, Cremers, FPM, Roosing, S, Broin, Pilib Ó, Morris, Derek, McVeigh, Úna M, McVeigh, Terri P, Miller, Nicola, Kerin, Michael J, Flaus, Andrew, Irwin, RE, Thursby, SJ, Ondičová, M, Pentieva, K, McNulty, H, Richmond, C, Caffrey, A, Lees-Murdock, DJ, McLaughlin, M, Cassidy, T, Suderman, M, Relton, CL, Walsh, CP, Carrigan, M, Maloney, D, Hanlon, K, Bookey, N, Drago, P, Parle-McDermott, A, Flynn, PM, Toulouse, A, Bermingham, N, Jansen, M, Hand, CK, Skelly, RD, Cole, J, Berkeley, M, Dinneen, Thomas, O’Cónail, A, Kirov, George, Lopez, Lorna M, Gallagher, Louise, Ning, Z, Williams, JM, Kumari, R, Baranov, PV, Moore, T, Bhandari, Sushil, Hillman, Sara, Dolma, Padma, Mukerji, Mitali, Prasher, Bhavana, Montgomery, Hugh E., Gunne, EA, Ward, A, Treacy, E, Lambert, D, Benson, KA, Murray, S, Senum, SR, Kennedy, C, Yachnin, K, Gangadharan, N, Harris, PC, Conlon, P, Zhu, J, Wynne, N, McKenna, C, Humphreys, M, McNerlan, S, Dabir, T, Rea, G, Morrison, PJ, Donnelly, DE, Jeffers, L, Sasaki, E, Kelly, H, Hayes, B, Ryan, K, Carolan, E, Betts, D, Green, A, Sheerin, A, Grabowsky, L, James, S, Senanayake, S, Abidin, Z, O’Byrne, J, Pastores, G, McConnell, V, Bradley, L, Reid, J, Fitzsimons, D, Dempster, M, Pentony, Michaela, Bradley, Lisa, Connor, Pamela O’, Kirk, Claire W, Donnelly, Deirdre E, Hardy, Rachel, Shepherd, Charles W, Morrison, Patrick J, Doyle, S, McVeigh, T, O’Byrne, JJ, Senanayake, SL, Sadok, S, Pastores, GM, Forde, R, Rakovac, A, Abdelfadil, S, Mac Namara, B, O’Connor, P, Heggarty, S, Hart, P, Morgan, NE, Dorris, E, Cummins, E, Adeeb, F, Taylor, C, Savic, S, Killeen, O, Fraser, A, Wilson, AG, Murphy, Jane, Kirk, Claire, Prendiville, Terence, Ward, Deirdre, Galvin, Joseph, Lynch, Sally Ann, Carroll, C, Kirk, C, Murphy, J, Duff, M, Mooney, E, Clark, T, King, C, Fallah, L, Hinde, J
Publikováno v:
The Ulster Medical Journal
Background Age-related cognitive decline results in increased difficulty in performing tasks that require memory or rapid information processing. Cognitive resilience is the ability to withstand the negative effects of stress on cognitive functioning
Autor:
Dyon Valkenburg, Boon Cjf., Stanley Lambertus, Carel B. Hoyng, B. J. Klevering, Moritz Lindner, Nathalie M. Bax, Monika Fleckenstein, Frank G. Holz, Cremers Fpm
Publikováno v:
Investigative Ophthalmology & Visual Science, 60(10), 3456-3467
Investigative Ophthalmology and Visual Science, 60, 3456-3467
Investigative ophthalmology & visual science, 60(10), 3456-3467. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 60, 10, pp. 3456-3467
Investigative Ophthalmology and Visual Science, 60, 3456-3467
Investigative ophthalmology & visual science, 60(10), 3456-3467. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 60, 10, pp. 3456-3467
Purpose: To describe foveal sparing (FS) in central retinal dystrophies (RD). Methods: Participants for this retrospective study were identified from the retinal dystrophy database of the Department of Ophthalmology at Radboud University Medical Cent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::828a15fc8dae4d031a91266a0dcdfdf7
http://hdl.handle.net/1887/121069
http://hdl.handle.net/1887/121069
Autor:
MacLaren, RE, Groppe, M, Barnard, AR, Cottriall, CL, Tolmachova, T, Seymour, L, Reed Clark, K, During, MJ, Cremers, FPM, Black, GCM, Lotery, AJ, Downes, SM, Webster, AR, Seabra, MC
Publikováno v:
The Lancet (London), 383, 9923, pp. 1129-37
Lancet
The Lancet (London), 383, 1129-37
Lancet
The Lancet (London), 383, 1129-37
Item does not contain fulltext BACKGROUND: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). We assessed the effects of retinal gene therapy with an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b400ded0a620ddf6f52efe71105d5db
https://hdl.handle.net/2066/136730
https://hdl.handle.net/2066/136730
Autor:
Mackay, DS, Borman, AD, Sui, R, van den Born, LI, Berson, EL, Ocaka, LA, Davidson, AE, Heckenlively, JR, Branham, K, Ren, HN, Lopez, I, De Maria, M, Azam, M, Henkes, A, Blokland, E, Andreasson, S, De Baere, E, Bennett, J, Chader, GJ, Berger, W, Golovleva, I, Greenberg, J, Hollander, AI, Klaver, Caroline, Klevering, BJ, Lorenz, B, Preising, MN, Ramesar, R, Roberts, L, Roepman, R, Rohrschneider, K, Wissinger, B, Qamar, R, Webster, AR, Cremers, FPM, Moore, AT, Koenekoop, RK
Publikováno v:
Human Mutation, 35(1), 150-150. Wiley-Liss Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e24bb04503fbe0fd3bea039f8e28d1e4
https://pure.eur.nl/en/publications/79dc78df-b0d7-4d64-b5a0-334a383bda74
https://pure.eur.nl/en/publications/79dc78df-b0d7-4d64-b5a0-334a383bda74
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