Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

Autor: Jurkute, Neringa, Shanmugarajah, Priya D, Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G, Raymond, F Lucy, Reilly, Mary M, Yu-Wai-Man, Patrick, Moore, Anthony T, Webster, Andrew R, Arno, Gavin, Genomics England Research Consortium

Publikováno v: Investigative ophthalmology & visual science, vol 62, iss 6

PurposeThe purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants.MethodsPatients carrying biallelic candidate FDXR variants were ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::571a4f90c9353d80f98663c3bad7386d
https://escholarship.org/uc/item/3x32m4g1

The Significance of Low Titre Antigliadin Antibodies in the Diagnosis of Gluten Ataxia

Autor: Hadjivassiliou, Marios, Grünewald, Richard A., Sanders, David S., Zis, Panagiotis, Croall, Iain, Shanmugarajah, Priya D., Sarrigiannis, Ptolemaios G., Trott, Nick, Wild, Graeme, Hoggard, Nigel

Publikováno v: Nutrients
Volume 10
Issue 10
Nutrients, Vol 10, Iss 10, p 1444 (2018)

Background: Patients with gluten ataxia (GA) without enteropathy have lower levels of antigliadin antibodies (AGA) compared to patients with coeliac disease (CD). Magnetic Resonance Spectroscopy (NAA/Cr area ratio) of the cerebellum improves in patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::225c651a725877d22553d5ba0c43e28a
https://pubmed.ncbi.nlm.nih.gov/30301184

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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

Autor: Anthony T. Moore, Yann Nadjar, Miodrag Vojcic, Patrick Yu-Wai-Man, F. Lucy Raymond, James Acheson, Anthony G. Robson, Guy Lenaers, Mary M. Reilly, Neringa Jurkute, Andrew R. Webster, Jenny Higgs, Gavin Arno, Priya D. Shanmugarajah, Marios Hadjivassiliou, Valérie Touitou, Iain Horrocks, Roy Poh

Publikováno v: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩

Author(s): Jurkute, Neringa; Shanmugarajah, Priya D; Hadjivassiliou, Marios; Higgs, Jenny; Vojcic, Miodrag; Horrocks, Iain; Nadjar, Yann; Touitou, Valerie; Lenaers, Guy; Poh, Roy; Acheson, James; Robson, Anthony G; Raymond, F Lucy; Reilly, Mary M; Yu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e772d58073fe92e45498c09665f6b8
http://hdl.handle.net/20.500.12278/32190