Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.

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Title: Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.
Authors: Sakti DH; Save Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia.; Department of Ophthalmology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia., Cornish EE; Save Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia.; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia., Fraser CL; Save Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia., Nash BM; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia.; Sydney Genome Diagnostics, Sydney Children's Hospital Network (Westmead), Sydney, Australia., Sandercoe TM; Department of Ophthalmology, Sydney Children's Hospital Network (Westmead), Sydney, Australia., Jones MM; Department of Ophthalmology, Sydney Children's Hospital Network (Westmead), Sydney, Australia., Rowe NA; Department of Ophthalmology, Sydney Children's Hospital Network (Westmead), Sydney, Australia., Jamieson RV; Save Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia.; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia., Johnson AM; Department of Neurology, Sydney Children's Hospital, University of New South Wales, Sydney, Australia., Grigg JR; Save Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia. john.grigg@sydney.edu.au.; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia. john.grigg@sydney.edu.au.; Department of Ophthalmology, Sydney Children's Hospital Network (Westmead), Sydney, Australia. john.grigg@sydney.edu.au.
Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2023 Jun; Vol. 146 (3), pp. 241-256. Date of Electronic Publication: 2023 Mar 25.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-2622
DOI:10.1007/s10633-023-09930-1