CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
出版年份 2020 全文链接
标题
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
作者
关键词
-
出版物
Acta Neuropathologica Communications
Volume 8, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-11-25
DOI
10.1186/s40478-020-01084-4
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias
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- Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy
- (2020) Takaaki Hayashi et al. OPHTHALMIC GENETICS
- Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
- (2020) Jianwen Deng et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
- (2020) Pu Fang et al. Annals of Clinical and Translational Neurology
- Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
- (2019) Yun Tian et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
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- Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
- (2019) Hiroyuki Ishiura et al. NATURE GENETICS
- GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy
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- Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
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- Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
- (2016) Jun Sone et al. BRAIN
- Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy
- (2015) Juan Zhao et al. PLoS One
- Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy
- (2013) J. Sone et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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- Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients
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