Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation-Reference-Cited by-同舟云学术

Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation

Published:2018-11-17 Issue:2 Volume:78 Page:181-186
ISSN:0022-3069
Container-title:Journal of Neuropathology & Experimental Neurology
language:en
Short-container-title:

Author:

Saito Rie¹,Nozaki Hiroaki²,Kato Taisuke³,Toyoshima Yasuko¹,Tanaka Hajime⁴,Tsubata Yutaka⁵,Morioka Tetsuo⁵⁶,Horikawa Yoh⁴⁷,Oyanagi Kiyomitsu⁸⁹,Morita Takashi,Onodera Osamu¹⁰,Kakita Akiyoshi¹

Affiliation:

1. Departments of Pathology

2. Brain Research Institute and Department of Medical Technology, Graduate School of Health Sciences, Niigata University, Niigata, Japan

3. Molecular Neuroscience

4. Departments of Neurology

5. Nephrology

6. Pathology, Shinrakuen Hospital, Niigata, Japan

7. Horikawa Clinic of Internal Medicine and Neurology, Niigata, Japan

8. Department of Brain Disease Research, Shinshu University School of Medicine, Nagano, Japan

9. Brain Research Laboratory, Hatsuishi Hospital, Chiba, Japan

10. Neurology

Funder

Japan Society for the Promotion of Science

Taisuke Kato

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://academic.oup.com/jnen/article-pdf/78/2/181/27498602/nly115.pdf

Reference16 articles.

1. Neuropathology and genetics of cerebroretinal vasculopathies;Kolar;Brain Pathol,2014

2. A new autosomal dominant vascular retinopathy syndrome;Storimans;Eur J Ophthalmol,1991

3. Cerebroretinal vasculopathy. A new hereditary syndrome;Grand;Ophthalmology,1988

4. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS);Jen;Neurology,1997

5. TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy;DiFrancesco;Neurol Sci,2015

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