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KLHL40 gene

Known as: nemaline myopathy type 8, KLHL40, NEM8 
National Institutes of Health

Papers overview

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2020
2020
Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms… 
2016
2016
Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle… 
2016
Review
2015
Review
2015
Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross… 
Highly Cited
2015
Highly Cited
2015
BackgroundFetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually… 
Highly Cited
2013
Highly Cited
2013
2013
2013
Highly Cited
2008
Highly Cited
2008
The pseudomonal phytotoxin syringomycin E and related nonribosomal peptides contain an L- threo-beta-hydroxyaspartyl residue at… 
Review
2008
Review
2008
The bulletin describes the survey’s design and methodology. It also provides an overview of the remaining bulletins in the series… 
Highly Cited
1997
Highly Cited
1997
Syringomycin is a lipodepsinonapeptide phytotoxin synthesized by Pseudomonas syringae pv. syringae on multienzymatic peptide…