Sort   by:  
 Page size 
GenomicsGGC repeat expansion within NOTCH2NLC causes behavioral deficits and neurodegeneration through misregulated alternative splicing
GGC repeat expansion within NOTCH2NLC causes behavioral deficits and neurodegeneration through misregulated alternative splicing
PRJNA758104 | ENA
UnknownExpansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Not available
S-EPMC7273532 | biostudies-literature
UnknownExpansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Not available
S-EPMC6612530 | biostudies-literature
TranscriptomicsGGC repeat expansion within NOTCH2NLC causes behavioral deficits and neurodegeneration through misregulated alternative splicing
GGC repeat expansion within NOTCH2NLC gene has been identified as the genetic cause of neuronal intranuclear inclusion disease (NIID). To understand the molecular pathogenesis of NIID, here we have established both a transgenic mouse model and a human neural progenitor cell (hNPC) model. We show tha...
ORGANISM(S): Homo sapiens Mus musculus 
2023-01-04 | GSE182878 | GEO
UnknownLow Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Not available
S-EPMC8436747 | biostudies-literature
UnknownNOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson's disease-like phenotypes in mice.
Not available
S-EPMC11603791 | biostudies-literature
UnknownNatural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder.
Not available
S-EPMC8479062 | biostudies-literature
UnknownNOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Not available
S-EPMC10152767 | biostudies-literature
UnknownNeuronal Intranuclear Inclusion Disease with NOTCH2NLC GGC Repeat Expansion: A Systematic Review and Challenges of Phenotypic Characterization.
Not available
S-EPMC11745434 | biostudies-literature
UnknownThe GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Not available
S-EPMC8320266 | biostudies-literature
Sort   by:  
 Page size