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Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".

作者信息

Vincent Ajoy, Macrì Angelo, Tumber Anupreet, Koukas Nikolas, Ahonen Saija, Striano Pasquale, Minassian Berge

机构信息

From the Hospital for Sick Children (A.V., A.T., S.A., B.M.), Toronto; University of Toronto (A.V.),Canada; Polyclinic Hospital San Martino (A.M.), Genova; University of Genova (N.K., P.S.); G. Gaslini Institute (P.S.), Genova; and University of Texas Southwestern (B.M.), Dallas.

出版信息

Neurology. 2018 Jul 17;91(3):137-139. doi: 10.1212/WNL.0000000000005821. Epub 2018 Jun 15.

Abstract
摘要

相似文献

1
Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".
Neurology. 2018 Jul 17;91(3):137-139. doi: 10.1212/WNL.0000000000005821. Epub 2018 Jun 15.

本文引用的文献

1
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy.
Neurology. 2016 Apr 19;86(16):1563. doi: 10.1212/WNL.0000000000002622.
2
Retinitis pigmentosa in Lafora disease: expanding findings of progressive myoclonic epilepsy.
Neurology. 2015 Sep 22;85(12):1087. doi: 10.1212/WNL.0000000000001957.
3
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Neurology. 2003 Dec 9;61(11):1611-4. doi: 10.1212/01.wnl.0000096017.19978.cb.
4
The retina in Lafora disease: light and electron microscopy.拉福拉病中的视网膜:光学显微镜和电子显微镜观察
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1980;212(3-4):285-94. doi: 10.1007/BF00410522.
5
Lafora-body disease with optic atrophy, macular degeneration and cardiac failure.
J Neurol Sci. 1989 Oct;93(1):69-84. doi: 10.1016/0022-510x(89)90162-7.
6
Electroretinographic responses in Lafora disease.
Electroencephalogr Clin Neurophysiol. 1978 Dec;45(6):785-8. doi: 10.1016/0013-4694(78)90146-3.

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