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
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M et al.
Scientific Reports, 2023
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
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
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
Ravenscroft G et al.
Seminars in Cell & Developmental Biology, 2017
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
[Congenital myasthenic syndromes; French experience].
Eymard B et al.
Bulletin De L'academie Nationale De Medecine, 2014