An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …
human neurological disease. They have an established role in more than 40 different …
The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review
XR Huang, BS Tang, P **, JF Guo - Molecular Neurobiology, 2022 - Springer
The human-specific gene NOTCH2NLC is primarily expressed in radial glial cells and plays
an important role in neuronal differentiation and cortical neurogenesis. Increasing studies …
an important role in neuronal differentiation and cortical neurogenesis. Increasing studies …
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
I Stevanovski, SR Chintalaphani, H Gamaarachchi… - Science …, 2022 - science.org
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …
(STR) expansions, with 37 different genes implicated to date. We describe the use of …
[HTML][HTML] Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases
M Boivin, J Deng, V Pfister, E Grandgirard… - Neuron, 2021 - cell.com
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease
characterized by the presence of intranuclear inclusions of unknown origin. NIID is caused …
characterized by the presence of intranuclear inclusions of unknown origin. NIID is caused …
Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease
Y Tian, L Zhou, J Gao, B Jiao, S Zhang… - Journal of Neurology …, 2022 - jnnp.bmj.com
Background Abnormal expanded GGC repeats within the NOTCH2HLC gene has been
confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear …
confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear …
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy
YH Liu, YT Chou, FP Chang, WJ Lee, YC Guo… - Brain, 2022 - academic.oup.com
Neuronal intranuclear inclusion disease (NIID), caused by an expansion of GGC repeats in
the 5′-untranslated region of NOTCH2NLC, is an important but underdiagnosed cause of …
the 5′-untranslated region of NOTCH2NLC, is an important but underdiagnosed cause of …
CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model
J Yu, T Liufu, Y Zheng, J Xu, L Meng… - Proceedings of the …, 2022 - National Acad Sciences
Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative
disease caused by the expansion of CGG repeats in the 5′ untranslated region (UTR) of …
disease caused by the expansion of CGG repeats in the 5′ untranslated region (UTR) of …
Clinical features and classification of neuronal Intranuclear inclusion disease
H Tai, A Wang, Y Zhang, S Liu, Y Pan, K Li… - Neurology …, 2023 - AAN Enterprises
Background and Objectives Neuronal intranuclear inclusion body disease (NIID) is a
neurodegenerative disease with highly heterogeneous clinical manifestations. The present …
neurodegenerative disease with highly heterogeneous clinical manifestations. The present …
Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions
ZD Zhou, J Jankovic, T Ashizawa, EK Tan - Nature Reviews Neurology, 2022 - nature.com
Non-coding CGG repeat expansions cause multiple neurodegenerative disorders, including
fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease …
fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease …
The polyG diseases: a new disease entity
T Liufu, Y Zheng, J Yu, Y Yuan, Z Wang, J Deng… - Acta Neuropathologica …, 2022 - Springer
Recently, inspired by the similar clinical and pathological features shared with fragile X-
associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the …
associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the …