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Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor(More)
The discovery that a hexanucleotide repeat expansion in C9orf72 is the most numerous genetic variant of both amyotrophic lateral sclerosis and frontotemporal dementia has opened a rapidly growing field, which may provide long hoped for advances in the understanding and treatment of these devastating diseases. In this review we describe the various(More)
Changes to previous version: Chapter Description of changes general Title page revised, header and footer added, minor grammatical changes 3.3 Link to SAP corrected 3.6 New chapter " Changes to finalized SAP " added The objective of this Standard Operating Procedure (SOP) is to describe the steps to be followed when using data from the Tinnitus Research(More)
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