Articles with "fus mutations" as a keyword



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Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition

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Published in 2021 at "Stem Cell Reports"

DOI: 10.1016/j.stemcr.2021.03.029

Abstract: Summary Neuromuscular junctions (NMJs) ensure communication between motor neurons (MNs) and muscle; however, in MN disorders, such as amyotrophic lateral sclerosis (ALS), NMJs degenerate resulting in muscle atrophy. The aim of this study was to… read more here.

Keywords: hdac6 inhibition; microfluidic devices; human motor; fus mutations ... See more keywords
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Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations

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Published in 2023 at "Chinese Medical Journal"

DOI: 10.1097/cm9.0000000000002495

Abstract: Abstract Background: Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of… read more here.

Keywords: sptlc1; jals patients; lateral sclerosis; fus mutations ... See more keywords