Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Autor: Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore

Publikováno v: PLoS ONE, Vol 7, Iss 3, p e32330 (2012)

Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the preva

Externí odkaz: https://doaj.org/article/ab358eecd7e74aa495b458512900acef

Rapid upwards spread of non-native plants in mountains across continents

Autor: Evelin Iseli, Chelsea Chisholm, Jonathan Lenoir, Sylvia Haider, Tim Seipel, Agustina Barros, Anna L. Hargreaves, Paul Kardol, Jonas J. Lembrechts, Keith McDougall, Irfan Rashid, Sabine B. Rumpf, José Ramón Arévalo, Lohengrin Cavieres, Curtis Daehler, Pervaiz A. Dar, Bryan Endress, Gabi Jakobs, Alejandra Jiménez, Christoph Küffer, Maritza Mihoc, Ann Milbau, John W. Morgan, Bridgett J. Naylor, Aníbal Pauchard, Amanda Ratier Backes, Zafar A. Reshi, Lisa J. Rew, Damiano Righetti, James M. Shannon, Graciela Valencia, Neville Walsh, Genevieve T. Wright, Jake M. Alexander

Publikováno v: Nature Ecology & Evolution, 7 (3)
Iseli, E, Chisholm, C, Lenoir, J, Haider, S, Seipel, T, Barros, A, Hargreaves, A L, Kardol, P, Lembrechts, J J, McDougall, K, Rashid, I, Rumpf, S B, Arévalo, J R, Cavieres, L, Daehler, C, Dar, P A, Endress, B, Jakobs, G, Jiménez, A, Küffer, C, Mihoc, M, Milbau, A, Morgan, J W, Naylor, B J, Pauchard, A, Ratier Backes, A, Reshi, Z A, Rew, L J, Righetti, D, Shannon, J M, Valencia, G, Walsh, N, Wright, G T & Alexander, J M 2023, ' Rapid upwards spread of non-native plants in mountains across continents ', Nature Ecology and Evolution, vol. 7, pp. 405-413 . https://doi.org/10.1038/s41559-022-01979-6

High-elevation ecosystems are among the few ecosystems worldwide that are not yet heavily invaded by non-native plants. This is expected to change as species expand their range limits upwards to fill their climatic niches and respond to ongoing anthr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3340981038de4602c48d509fedc8159d
https://hdl.handle.net/20.500.11850/603783

Autosomal Recessive Bestrophinopathy

Autor: Nikolas Pontikos, Kamron N. Khan, Genevieve A. Wright, Michalis Georgiou, Monica Armengol, Giuseppe Casalino, Michel Michaelides, Parampal S. Grewal, Andrew R. Webster, Anthony G. Robson

Publikováno v: Ophthalmology

Purpose To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. Design Retrospective case series. Participants Patients with a detailed clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b4c060a5b99c80c34198bf18f34d4f
http://europepmc.org/articles/PMC8062850

Macula-predominant retinopathy associated with biallelic variants in RDH12

Autor: Anthony G. Robson, Konstantinos Bouras, Rola Ba-Abbad, Andrew R. Webster, Gavin Arno, Michel Michaelides, Genevieve A. Wright, Michalis Georgiou

Publikováno v: Ophthalmic Genetics. 41:612-615

To describe the clinical, electrophysiological, and molecular features of an unusual macula-predominant retinopathy in two unrelated probands with biallelic variants in RDH12. Retrospective case se...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::42ef6180715ad7b0949b18e6f024ddec
https://doi.org/10.1080/13816810.2020.1802763

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Autor: Genevieve A. Wright, Emanuel R. de Carvalho, Anthony G. Robson, Ambreen Kalhoro, Nikolas Pontikos, Magella M. Neveu, Ngozi Oluonye, Naser Ali, Richard G. Weleber, Michel Michaelides, Michalis Georgiou, SM Kleine Holthaus

Publikováno v: Ophthalmology. Retina

Purpose To characterize the retinal phenotype of juvenile neuronal ceroid lipofuscinosis (JNCL), highlight delayed and mistaken diagnosis, and propose an algorithm for early identification. Design Retrospective case series. Subjects Eight children (5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580235e2635794df8642be1e584bb024
http://europepmc.org/articles/PMC7479512