GGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Annals of neurology"
DOI: 10.1002/ana.25818
Abstract: through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/ana.25818 GGC Repeat Expansion in NOTCH2NLC is rare… read more here.
Keywords: ggc repeat; expansion notch2nlc; repeat expansion; european leukoencephalopathy ... See more keywords
NOTCH2NLC GGC Repeat Expansion Presenting as Adult‐Onset Cervical Dystonia
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DOI: 10.1002/mdc3.13677
Abstract: Neuronal intranuclear inclusion disease (NIID) is the pathological hallmark of a heterogeneous neurodegenerative disease span-ning dementia, neuropathy, parkinsonism, encephalitic episodes, and seizures. 1 Onset may be in infancy, childhood, or adulthood and be sporadic or… read more here.
Keywords: adult; adult onset; cervical dystonia; ggc repeat ... See more keywords
GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome
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DOI: 10.1007/s00415-022-11092-0
Abstract: A genetic diagnosis cannot be made in a considerable proportion of patients with hereditary lower motor neuron (LMN) syndromes. The GGC repeat expansion in the 5′untranslated region (5′UTR) of NOTCH2NLC gene has been reported to… read more here.
Keywords: ggc repeat; phenotype; lower motor; ggc ... See more keywords
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
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DOI: 10.1016/j.ajhg.2020.04.011
Abstract: Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs)… read more here.
Keywords: expansion; gipc1; repeat; ggc repeat ... See more keywords
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3
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DOI: 10.1093/brain/awab077
Abstract: Oculopharyngodistal myopathy (OPDM) is associated with trinucleotide repeat expansions in LRP12 or GIPC1, but the genetic basis of many cases remains unknown. Yu et al. identify GGC repeat expansions in NOTCH2NLC in Chinese patients with… read more here.
Keywords: repeat expansion; ggc repeat; oculopharyngodistal myopathy;
NOTCH2NLC expanded GGC repeats in patients with cerebral small vessel disease
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DOI: 10.1136/svn-2022-001631
Abstract: Objective GGC repeat expansions in the human-specific NOTCH2NLC gene have been reported as the cause of neuronal intranuclear inclusion disease (NIID). Given the clinical overlap of cognitive impairment in NIID and cerebral small vessel disease… read more here.
Keywords: csvd; disease; repeat; repeat expansions ... See more keywords
A polymorphic GGC repeat in the NPAS2 gene and its association with melanoma
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DOI: 10.1177/1535370217724093
Abstract: Circadian clock regulation in mammals is controlled by feedback loops of a set of circadian genes. One of these circadian genes, NPAS2, encodes for a member of the bHLH-PAS class of transcription factors and is… read more here.
Keywords: melanoma; repeat; ggc repeat; gene ... See more keywords
GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies
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DOI: 10.1212/wnl.0000000000013008
Abstract: Background and Objectives The GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease (NIID), which may manifest with peripheral neuropathy. The aim of… read more here.
Keywords: ggc repeat; expansion notch2nlc; repeat expansion; expansion ... See more keywords
Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis
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DOI: 10.3390/brainsci13010085
Abstract: GGC repeat expansions in the 5’ untranslated region (5’UTR) of the Notch Homolog 2 N-terminal-like C gene (NOTCH2NLC) have been reported to be the genetic cause of neuronal intranuclear inclusion disease (NIID). However, whether they… read more here.
Keywords: repeat expansion; intermediate length; repeat; ggc repeat ... See more keywords