Retinal alterations in patients with Lafora disease-Reference-Cited by-同舟云学术

Retinal alterations in patients with Lafora disease

Published:2021-09 Issue: Volume:23 Page:101146
ISSN:2451-9936
Container-title:American Journal of Ophthalmology Case Reports
language:en
Short-container-title:American Journal of Ophthalmology Case Reports

Author:

Heitkotter Heather^ORCID,Linderman Rachel E.,Cava Jenna A.^ORCID,Woertz Erica N.^ORCID,Mastey Rebecca R.,Summerfelt Phyllis,Chui Toco Y.,Rosen Richard B.,Patterson Emily J.,Vincent Ajoy,Carroll Joseph^ORCID,Minassian Berge A.

Publisher

Elsevier BV

Subject

Ophthalmology

Reference26 articles.

1. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation;Fernandez-Sanchez;Hum Mol Genet,2003

2. Lafora disease - from pathogenesis to treatment strategies;Nitschke;Nat Rev Neurol,2018

3. Pathogenesis of Lafora disease: transition of soluble glycogen to insoluble polyglucosan;Sullivan;Int J Mol Sci,2017

4. The retina in Lafora disease: light and electron microscopy;Berard-Badier;Albrecht Von Graefe's Arch Clin Exp Ophthalmol,1980

5. The retinal pathology of Lafora disease: a form of glycoprotein-acid mucopolysaccharide dystrophy;Yanoff;Trans Am Acad Ophthalmol Otolaryngol,1965

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1. Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses;Acta Neuropathologica;2024-02-27

2. Retinal Phenotyping of a Murine Model of Lafora Disease;Genes;2023-03-31

3. Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling;Animals;2022-06-25

4. Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage;Journal of Neurology;2022-02-20