Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype
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Title
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype
Authors
Keywords
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Journal
GENOMICS
Volume 114, Issue 5, Pages 110469
Publisher
Elsevier BV
Online
2022-08-27
DOI
10.1016/j.ygeno.2022.110469
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Related references
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- CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
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- Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
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- (2019) Jun Sone et al. NATURE GENETICS
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- (2016) Jun Sone et al. BRAIN
- Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele
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- Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers
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