The possible role of somatic copy number variations (CNVs) in Alzheimer's disease (AD) aetiology has been controversial. Although cytogenetic studies suggested increased CNV loads in AD brains, a rece
Genetic testing for diagnosis of neurodegenerative diseases (NDs) is highly challenging because of genotype heterogeneity and overlapping clinical manifestations. Targeted-gene panels (TGPs), coupled
Pacific Biosciences (PacBio) single-molecule sequencing of C9orf72 FTD/ALS patient and control cell lines using No-Amp PacBio protocol with CRISPR/Cas9 excision of the C9orf72 repeat region.
1 year old mice were perfused and brains were dissociated. Cells were fixed, immunolabeled and FACS sorted. RNA was extracted from neuron, astrocyte, and microglial cell populations. Typical RIN=4-5 f
Transcriptional dysregulation in a primary cortical neuron model of Huntington''s disease Overall design: RNA-seq of primary cortical neurons transduced with control vector, wildtype Htt or Mutant Htt
