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UnknownNovel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.
Not available
S-EPMC10433532 | biostudies-literature
UnknownTREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
Not available
S-EPMC11224616 | biostudies-literature
UnknownNOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
Not available
S-EPMC10863424 | biostudies-literature
UnknownReduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
Not available
S-EPMC10012809 | biostudies-literature
UnknownMutations in the TSGA14 gene in families with autism spectrum disorders.
Not available
S-EPMC3552624 | biostudies-literature
UnknownTriggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.
Not available
S-EPMC7546799 | biostudies-literature
UnknownR47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.
Not available
S-EPMC4825672 | biostudies-literature
UnknownAltered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Not available
S-EPMC3723311 | biostudies-literature
UnknownADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Not available
S-EPMC4676753 | biostudies-literature
UnknownDefects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Not available
S-EPMC10175346 | biostudies-literature
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