Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype-Reference-Cited by-同舟云学术

Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype

Published:2022-09 Issue:5 Volume:114 Page:110469
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Kameyama Shinichi,Mizuguchi Takeshi,Doi Hiroshi,Koyano Shigeru,Okubo Masaki,Tada Mikiko,Shimizu Hiroshi,Fukuda Hiromi,Tsuchida Naomi,Uchiyama Yuri,Koshimizu Eriko,Hamanaka Kohei,Fujita Atsushi,Misawa Kazuharu,Miyatake Satoko,Kanai Kazuaki,Tanaka Fumiaki,Matsumoto Naomichi

Funder

Japan Society for the Promotion of Science

Takeda Science Foundation

Japan Agency for Medical Research and Development

Yokohama City University

Publisher

Elsevier BV

Subject

Genetics

Reference36 articles.

1. Homozygosity in Huntington’s disease: new ethical dilemma caused by molecular diagnosis;Alonso;Clin. Genet.,2002

2. RAN Translation in Huntington Disease;Banez-Coronel;Neuron,2015

3. Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases;Boivin;Neuron,2021

4. Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a southeast Asian cohort;Chen;Clin. Genet.,2020

5. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I;Chung;Nat. Genet.,1993

Cited by 4 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. Application of long read sequencing in rare diseases: The longer, the better?;European Journal of Medical Genetics;2023-12

2. Challenges facing repeat expansion identification, characterisation, and the pathway to discovery;Emerging Topics in Life Sciences;2023-10-27

3. Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion;Brain Sciences;2023-06-15

4. Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC;Neurological Sciences;2023-02-21