Search Results - "MICHAELIDES, MICHEL"

Inherited retinal diseases: Therapeutics, clinical trials and end points—A review by Georgiou, Michalis, Fujinami, Kaoru, Michaelides, Michel

“…Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction…”
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Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options by Tanna, Preena, Strauss, Rupert W, Fujinami, Kaoru, Michaelides, Michel

“…Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene…”
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Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options by Rahman, Najiha, Georgiou, Michalis, Khan, Kamron N, Michaelides, Michel

“…Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in…”
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Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches by Berry, Vanita, Georgiou, Michalis, Fujinami, Kaoru, Quinlan, Roy, Moore, Anthony, Michaelides, Michel

“…Cataract is the most common cause of blindness in the world; during infancy and early childhood, it frequently results in visual impairment. Congenital…”
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Gene therapy for neovascular age-related macular degeneration: rationale, clinical trials and future directions by Guimaraes, Thales Antonio Cabral de, Georgiou, Michalis, Bainbridge, James W B, Michaelides, Michel

“…Age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness in the developed world. Antivascular endothelial growth factor…”
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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom by Pontikos, Nikolas, Arno, Gavin, Jurkute, Neringa, Schiff, Elena, Ba-Abbad, Rola, Malka, Samantha, Gimenez, Ainoa, Georgiou, Michalis, Wright, Genevieve, Armengol, Monica, Knight, Hannah, Katz, Menachem, Moosajee, Mariya, Yu-Wai-Man, Patrick, Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.

“…In a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigated proportions with disease attributable to causative…”
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Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options by Hirji, Nashila, Aboshiha, Jonathan, Georgiou, Michalis, Bainbridge, James, Michaelides, Michel

“…Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can…”
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The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies by De Silva, Samantha R., Arno, Gavin, Robson, Anthony G., Fakin, Ana, Pontikos, Nikolas, Mohamed, Moin D., Bird, Alan C., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.

“…X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without…”
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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease by Fujinami, Kaoru, MD, Zernant, Jana, MS, Chana, Ravinder K., BSc, Wright, Genevieve A., BSc, Tsunoda, Kazushige, MD, PhD, Ozawa, Yoko, MD, PhD, Tsubota, Kazuo, MD, PhD, Robson, Anthony G., PhD, Holder, Graham E., PhD, Allikmets, Rando, PhD, Michaelides, Michel, MD, FRCOphth, Moore, Anthony T., FRCS, FRCOphth

“…Purpose To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD). Design Retrospective case series…”
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Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration by Mehat, Manjit S., Sundaram, Venki, Ripamonti, Caterina, Robson, Anthony G., Smith, Alexander J., Borooah, Shyamanga, Robinson, Martha, Rosenthal, Adam N., Innes, William, Weleber, Richard G., Lee, Richard W.J., Crossland, Michael, Rubin, Gary S., Dhillon, Baljean, Steel, David H.W., Anglade, Eddy, Lanza, Robert P., Ali, Robin R., Michaelides, Michel, Bainbridge, James W.B.

“…Transplantation of human embryonic stem cell (hESC)-derived retinal pigment epithelial (RPE) cells offers the potential for benefit in macular degeneration…”
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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis by Bainbridge, James W.B, Mehat, Manjit S, Sundaram, Venki, Robbie, Scott J, Barker, Susie E, Ripamonti, Caterina, Georgiadis, Anastasios, Mowat, Freya M, Beattie, Stuart G, Gardner, Peter J, Feathers, Kecia L, Luong, Vy A, Yzer, Suzanne, Balaggan, Kamaljit, Viswanathan, Ananth, de Ravel, Thomy J.L, Casteels, Ingele, Holder, Graham E, Tyler, Nick, Fitzke, Fred W, Weleber, Richard G, Nardini, Marko, Moore, Anthony T, Thompson, Debra A, Petersen-Jones, Simon M, Michaelides, Michel, van den Born, L. Ingeborgh, Stockman, Andrew, Smith, Alexander J, Rubin, Gary, Ali, Robin R

“…Long-term follow-up of 12 persons with Leber's congenital amaurosis treated with gene therapy showed that about half of them had improvements in retinal…”
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Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy by Tee, James J.L., Yang, Yesa, Kalitzeos, Angelos, Webster, Andrew, Bainbridge, James, Michaelides, Michel

“…This is a quantitative study of retinal structure, progression rates, and interocular symmetry in retinitis pigmentosa GTPase regulator gene (RPGR)-associated…”
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Visual hallucinations in neurological and ophthalmological disease: pathophysiology and management by O'Brien, John, Taylor, John Paul, Ballard, Clive, Barker, Roger A, Bradley, Clare, Burns, Alistair, Collerton, Daniel, Dave, Sonali, Dudley, Rob, Francis, Paul, Gibbons, Andrea, Harris, Kate, Lawrence, Vanessa, Leroi, Iracema, McKeith, Ian, Michaelides, Michel, Naik, Chaitali, O'Callaghan, Claire, Olsen, Kirsty, Onofrj, Marco, Pinto, Rebecca, Russell, Gregor, Swann, Peter, Thomas, Alan, Urwyler, Prabitha, Weil, Rimona Sharon, ffytche, Dominic

“…Visual hallucinations are common in older people and are especially associated with ophthalmological and neurological disorders, including dementia and…”
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa by de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.

“…The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated in families lacking a molecular…”
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Clinical and Genetic Features of Choroideremia in Childhood by Khan, Kamron N., PhD, FRCOphth, Islam, Farrah, FCPS, FRCS, Moore, Anthony T., FRCS, FRCOphth, Michaelides, Michel, MD(Res), FRCOphth

“…Purpose To review the functional and anatomic characteristics of choroideremia in the pediatric population, aiming to describe the earliest features of the…”
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GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies by Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel

“…To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in…”
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RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options by Tee, James J L, Smith, Alexander J, Hardcastle, Alison J, Michaelides, Michel

“…Retinitis pigmentosa GTPase regulator (RPGR) gene sequence variants account for the vast majority of X linked retinitis pigmentosa (RP), which is one of the…”
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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia by Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seeliger, Mathias W, Stanzial, Franco, Benedicenti, Francesco, Inzana, Francesca, Héon, Elise, Vincent, Ajoy, Beis, Jill, Strom, Tim M, Rudolph, Günther, Roosing, Susanne, Hollander, Anneke I den, Cremers, Frans P M, Lopez, Irma, Ren, Huanan, Moore, Anthony T, Webster, Andrew R, Michaelides, Michel, Koenekoop, Robert K, Zrenner, Eberhart, Kaufman, Randal J, Tsang, Stephen H, Wissinger, Bernd, Lin, Jonathan H

“…Susanne Kohl and colleagues report mutations in ATF6 , a regulator of the unfolded protein response pathway, that cause a familial form of achromatopsia. Their…”
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CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History by Daich Varela, Malena, Georgiou, Michalis, Alswaiti, Yahya, Kabbani, Jamil, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Khoda, Shaheeni, Mahroo, Omar A., Robson, Anthony G., Webster, Andrew R., AlTalbishi, Alaa, Michaelides, Michel

“…To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. Multicenter international retrospective cohort…”
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Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy by Khan, Kamron N., Kasilian, Melissa, Mahroo, Omar A.R., Tanna, Preena, Kalitzeos, Angelos, Robson, Anthony G., Tsunoda, Kazushige, Iwata, Takeshi, Moore, Anthony T., Fujinami, Kaoru, Michaelides, Michel

“…To describe the earliest features of ABCA4-associated retinopathy. Case series. Children with a clinical and molecular diagnosis of ABCA4-associated…”
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