NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome-Reference-Cited by-同舟云学术

NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome

Published:2020-08-01 Issue:8 Volume:143 Page:e69-e69
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Ng Adeline S L¹²^ORCID,Xu Zheyu¹,Chen Zhiyong¹^ORCID,Tan Yi Jayne¹,Lim Weng Khong³⁴^ORCID,Ting Simon K S⁵,Yu Wai Yung⁶,Cheng Qian Hui⁶^ORCID,Foo Jia Nee⁷⁸,Tan Eng King²⁵,Lim Tchoyoson C C⁶⁹^ORCID

Affiliation:

1. Department of Neurology, National Neuroscience Institute, Tan Tock Seng Hospital, Singapore

2. Neuroscience and Behavioral Disorders, Duke NUS Medical School, Singapore

3. SingHealth Duke-NUS Institute of Precision Medicine, Singapore

4. Cancer and Stem Cell Biology Program, Duke-NUS Medical School, Singapore

5. Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore

6. Department of Neuroradiology, National Neuroscience Institute, Singapore

7. Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore

8. Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore

9. Radiological Sciences Duke NUS Medical School, Singapore

Funder

Singapore’s National Medical Research Council’s

NMRC

NNI Centre Grant Seed Funding Programme Pilot

NMRC Singapore Translational Research

Large Collaborative Grant—Open Fund

National Neuroscience Institute’s Health Research Endowment Fund

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/143/8/e69/33773914/awaa210.pdf

Reference11 articles.

1. Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma;Gelpi;Brain,2017

2. Fragile X syndrome;Hagerman;Nat Rev Dis Primers,2017

3. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease;Ishiura;Nat Genet,2019

4. MR imaging features of adult-onset neuronal intranuclear inclusion disease may be indistinguishable from fragile X-associated tremor/ataxia syndrome;Padilha;AJNR Am J Neuroradiol,2018

5. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease;Sone;Nat Genet,2019

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