Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.
Al Jabry T et al.
European Journal of Medical Genetics, 2024
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H et al.
Journal of Human Genetics, 2022
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Huybrechts Y et al.
Genes, 2021
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution.
Takeda JI et al.
Nar Genomics and Bioinformatics, 2020
Lrp4 Mediates Bone Homeostasis and Mechanotransduction through Interaction with Sclerostin In Vivo.
Bullock WA et al.
Iscience, 2019
Congenital Myasthenic Syndromes in 2018.
Engel AG
Current Neurology and Neuroscience Reports, 2018
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
Sukenik Halevy R et al.
Human Mutation, 2018
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
Congenital myasthenic syndromes: recent advances.
Beeson D
Current Opinion in Neurology, 2016
LRP4 in neuromuscular junction and bone development and diseases.
Shen C et al.
Bone, 2015
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
Selcen D et al.
Jama Neurology, 2015
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG et al.
The Lancet. Neurology, 2015
Inherited disorders of the neuromuscular junction: an update.
Rodríguez Cruz PM et al.
Journal of Neurology, 2014
LRP4 is critical for neuromuscular junction maintenance.
Barik A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM et al.
Current Opinion in Neurology, 2014
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Ohkawara B et al.
Human Molecular Genetics, 2014