Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy-Reference-Cited by-同舟云学术

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy

Published:2020-01-02 Issue:1 Volume:41 Page:93-95
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Hayashi Takaaki¹²,Katagiri Satoshi¹,Mizobuchi Kei¹,Yoshitake Kazutoshi³,Kameya Shuhei⁴,Matsuura Tomokazu⁵,Iwata Takeshi³,Nakano Tadashi¹

Affiliation:

1. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan

2. Department of Ophthalmology, Katsushika Medical Center, the Jikei University School of Medicine, Tokyo, Japan

3. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

4. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan

5. Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, Japan

Funder

Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research

Japanese Retinitis Pigmentosa Society (JRPS) Research Grant

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1723119

Reference6 articles.

1. Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy

2. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

3. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

4. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

5. Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis;Journal of Neurology;2024-07-30

2. Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series;Frontiers in Medicine;2024-01-15

3. A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease;Neurological Sciences;2023-05-15

4. NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review;Medicine;2023-05-12

5. NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment;Acta Neuropathologica Communications;2023-05-02