Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.
Sönmez B et al.
Molecular Syndromology, 2025
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
Buchignani B et al.
Genes, 2024
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.
Mansur A et al.
Elife, 2023
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.
Skrypnyk C et al.
Frontiers in Genetics, 2023
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
Hong SE et al.
Journal of Medical Genetics, 2022
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Yuan H et al.
Orphanet Journal of Rare Diseases, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Yi S et al.
Molecular Genetics & Genomic Medicine, 2021
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS et al.
Molecular Genetics & Genomic Medicine, 2020
Kelch-like proteins: Physiological functions and relationships with diseases.
Shi X et al.
Pharmacological Research, 2019
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
Lee HH et al.
Journal of Neuropathology and Experimental Neurology, 2019
Nemaline myopathies: a current view.
Sewry CA et al.
Journal of Muscle Research and Cell Motility, 2019
Myopathology in congenital myopathies.
Sewry CA et al.
Neuropathology and Applied Neurobiology, 2017
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian AM et al.
Neuromuscular Disorders : Nmd, 2016
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Garg A et al.
The Journal of Clinical Investigation, 2014
Recent advances in nemaline myopathy.
Romero NB et al.
Current Opinion in Neurology, 2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G et al.
American Journal of Human Genetics, 2013