Article

Rapid and automated quantification of TDP-43 and FUS mislocalisation for screening of frontotemporal dementia and amyotrophic lateral sclerosis gene variants

2021-03-08

Abstract excerpt

<h4>Background</h4> Identified genetic mutations cause 20% of frontotemporal dementia (FTD) and 5-10% of amyotrophic lateral sclerosis (ALS) cases: however, for the remainder of patients the origin of the disease is uncertain. The overlap in genetic, clinical and pathological presentation of FTD and ALS suggests these two diseases are related. Post-mortem, 97% of ALS and ∼50% of FTD patients show redistribution o...

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Literature Corpus work: dc0c0718-8a32-5be8-b736-4806bcc64bc0
DOI: 10.1101/2021.03.07.433817

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