Search Results - "Casey, Geoffrey A."
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Ocular Gene Therapy with Adeno-associated Virus Vectors: Current Outlook for Patients and Researchers
Published in Journal of ophthalmic & vision research (29-07-2020)“…In this “Perspective”, we discuss ocular gene therapy – the patient’s perspective, the various strategies of gene replacement and gene editing, the place of…”
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Journal Article -
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PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic
Published in Ophthalmology science (Online) (01-06-2021)“…PurposePeroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic…”
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Journal Article -
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PEX6 Mutations in Peroxisomal Biogenesis Disorders
Published in Ophthalmology science (Online) (01-06-2021)“…Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic dysfunction, and…”
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Journal Article -
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
Published in Nature communications (03-11-2022)“…Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile cilia propel sperm or extracellular fluids, and their dysfunction…”
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Journal Article