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KLHL40 gene
Known as:
nemaline myopathy type 8
, KLHL40
, NEM8
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National Institutes of Health
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Related topics
Related topics
2 relations
KBTBD4 gene
NEMALINE MYOPATHY 8
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
Kit San Yeung
,
F. Yu
,
+15 authors
B. Chung
Molecular Genetics & Genomic Medicine
2020
Corpus ID: 217587666
Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms…
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2016
2016
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
D. Natera-de Benito
,
A. Nascimento
,
+9 authors
H. Lochmüller
Journal of Neurology
2016
Corpus ID: 39945143
Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle…
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2016
2016
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
A. Seferian
,
E. Malfatti
,
+10 authors
L. Servais
Neuromuscular Disorders
2016
Corpus ID: 4082717
Review
2015
Review
2015
Congenital myopathies
I. Colombo
,
M. Scoto
,
+9 authors
F. Muntoni
Neurology
2015
Corpus ID: 20645642
Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross…
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Highly Cited
2015
Highly Cited
2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
E. Todd
,
K. Yau
,
+23 authors
G. Ravenscroft
Orphanet Journal of Rare Diseases
2015
Corpus ID: 28933361
BackgroundFetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually…
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Highly Cited
2013
Highly Cited
2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
G. Ravenscroft
,
S. Miyatake
,
+52 authors
N. Laing
American Journal of Human Genetics
2013
Corpus ID: 40619200
2013
2013
Kbtbd5 is regulated by MyoD and restricted to the myogenic lineage.
K. Bowlin
,
L. Embree
,
M. Garry
,
D. Garry
,
Xiaozhong Shi
Differentiation; research in biological diversity
2013
Corpus ID: 20663306
Highly Cited
2008
Highly Cited
2008
beta-Hydroxylation of the aspartyl residue in the phytotoxin syringomycin E: characterization of two candidate hydroxylases AspH and SyrP in Pseudomonas syringae.
Gitanjali M Singh
,
Pascal D. Fortin
,
A. Koglin
,
C. Walsh
Biochemistry
2008
Corpus ID: 30430072
The pseudomonal phytotoxin syringomycin E and related nonribosomal peptides contain an L- threo-beta-hydroxyaspartyl residue at…
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Review
2008
Review
2008
Introduction to the Survey of Youth in Residential
A. Sedlak
2008
Corpus ID: 74133741
The bulletin describes the survey’s design and methodology. It also provides an overview of the remaining bulletins in the series…
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Highly Cited
1997
Highly Cited
1997
Analysis of the syrP gene, which regulates syringomycin synthesis by Pseudomonas syringae pv. syringae
J. H. Zhang
,
N. Quigley
,
D. Gross
Applied and Environmental Microbiology
1997
Corpus ID: 127284
Syringomycin is a lipodepsinonapeptide phytotoxin synthesized by Pseudomonas syringae pv. syringae on multienzymatic peptide…
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