Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases
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DOI: 10.1093/brain/awab006
Abstract: Abstract To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp… read more here.
Keywords: expansion; long read; c9orf72 linked; clinicopathological associations ... See more keywords
New clinicopathological associations and histoprognostic markers in ILAE types of hippocampal sclerosis
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DOI: 10.1111/bpa.12596
Abstract: Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE‐HS) is a heterogeneous syndrome. Surgery results in seizure freedom for most pharmacoresistant patients, but the epileptic and cognitive prognosis remains variable. The 2013 International League Against Epilepsy… read more here.
Keywords: hippocampal sclerosis; ilae types; clinicopathological associations; new clinicopathological ... See more keywords